19-1806208-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1806208
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1806208
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 31384
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.678-40C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.519-40C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.566-40C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*604C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.519-40C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.678-40C>T
  variant of: http://identifiers.org/hgnc/13535
canonical: false
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5673
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15835
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1485
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8138
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8874
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7473
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1732
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17970
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1505
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/19-1806210-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1806210
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1806210
    reference: chr 19
allele count: 32883
allele frequency: 9.999695900742002e-1
allele num: 32884
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.566-42T>G
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.678-42T>G
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.678-42T>G
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*602T>G
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.519-42T>G
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.519-42T>G
  variant of: http://identifiers.org/hgnc/13535
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 152
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 115
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 3.75e1
  variant carriers: 1129
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.75e1
  variant carriers: 210
genotype depth: GenotypeDepth
  all individuals: 11823
  bin: 2.5e0
  variant carriers: 11818
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 2.25e1
  variant carriers: 1832
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.75e1
  variant carriers: 437
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 1.75e1
  variant carriers: 1956
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 4.25e1
  variant carriers: 680
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 5951
  bin: 1.25e1
  variant carriers: 5951
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.25e1
  variant carriers: 290
genotype depth: GenotypeDepth
  all individuals: 25170
  bin: 7.5e0
  variant carriers: 25170
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 99
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 3.25e1
  variant carriers: 1613
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 2.75e1
  variant carriers: 1834
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 6.75e1
  variant carriers: 748
genotype quality: GenotypeQuality
  all individuals: 6602
  bin: 1.25e1
  variant carriers: 6602
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.5e0
  variant carriers: 87
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 9.25e1
  variant carriers: 612
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 8.25e1
  variant carriers: 729
genotype quality: GenotypeQuality
  all individuals: 5415
  bin: 7.5e0
  variant carriers: 5415
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 5.25e1
  variant carriers: 753
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 7.75e1
  variant carriers: 740
genotype quality: GenotypeQuality
  all individuals: 3519
  bin: 3.25e1
  variant carriers: 3519
genotype quality: GenotypeQuality
  all individuals: 3024
  bin: 2.75e1
  variant carriers: 3024
genotype quality: GenotypeQuality
  all individuals: 4139
  bin: 9.75e1
  variant carriers: 4139
genotype quality: GenotypeQuality
  all individuals: 1787
  bin: 3.75e1
  variant carriers: 1787
num of homozygotes: 16441
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

19-1806215-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1806215
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1806215
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 27866
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.678-47G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.566-47G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.678-47G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.519-47G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*597G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.519-47G>A
  variant of: http://identifiers.org/hgnc/13535
canonical: false
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22866
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19201
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17701
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2280
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9320
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8236
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6496
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

19-1806584-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1806584
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1806584
    reference: chr 19
allele count: 1
allele frequency: 5.011526510975243e-5
allele num: 19954
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.677+43G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.518+43G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.565+43G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.677+43G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*304+43G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.518+43G>A
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35965
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5528
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3775
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1514
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7672
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1905
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

19-1806597-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1806597
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1806597
    reference: chr 19
allele count: 30
allele frequency: 1.483239394838327e-3
allele num: 20226
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.677+30C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.518+30C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.518+30C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.565+30C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*304+30C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.677+30C>T
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7566
  bin: 7.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 35751
  bin: 2.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2656
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30993
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1531
  bin: 9.75e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 3891
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3336
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD

19-1806599-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1806599
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1806599
    reference: chr 19
allele count: 1
allele frequency: 4.937296336526118e-5
allele num: 20254
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.677+28C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.677+28C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*304+28C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.565+28C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.518+28C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.518+28C>T
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35333
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8475
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2355
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2748
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6397
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31402
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-1806615-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1806615
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1806615
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 20648
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.565+12G>C
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.677+12G>C
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.518+12G>C
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.677+12G>C
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*304+12G>C
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.518+12G>C
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13323
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1703
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29947
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4256
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-1806624-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1806624
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1806624
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 21070
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.677+3G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.518+3G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.518+3G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*304+3G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.565+3G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.677+3G>A
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29474
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16715
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2103
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1538
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 1.25e1
  variant carriers: 0
hgvs: c.677+3G>A
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP

19-1806625-ACCTCTTCC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1806625
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1806617
    reference: chr 19
allele count: 1
allele frequency: 4.73215975771342e-5
allele num: 21132
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.559_565+1delGGAAGAGG
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.671_677+1delGGAAGAGG
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.671_677+1delGGAAGAGG
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*298_*304+1delGGAAGAGG
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.512_518+1delGGAAGAGG
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.512_518+1delGGAAGAGG
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: splice donor
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17034
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1969
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14209
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27664
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
hgvs: c.671_677+1delGGAAGAGG
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: ACCTCTTCC
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

19-1806633-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1806633
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1806633
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 21510
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.671G>A
  hgvsp: ENSP00000443574.1:p.Gly224Glu
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*298G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.671G>A
  hgvsp: ENSP00000311336.6:p.Gly224Glu
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.559G>A
  hgvsp: ENSP00000445883.1:p.Gly187Glu
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.512G>A
  hgvsp: ENSP00000445204.1:p.Gly171Glu
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.512G>A
  hgvsp: ENSP00000437115.1:p.Gly171Glu
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19165
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27345
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4472
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26046
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2247
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly224Glu
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-1806638-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1806638
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1806638
    reference: chr 19
allele count: 1
allele frequency: 4.596433167861739e-5
allele num: 21756
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.554G>A
  hgvsp: ENST00000533993.2:c.554G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.666G>A
  hgvsp: ENST00000539485.1:c.666G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.666G>A
  hgvsp: ENST00000310127.6:c.666G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.507G>A
  hgvsp: ENST00000526092.2:c.507G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*293G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.507G>A
  hgvsp: ENST00000525591.1:c.507G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26406
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25030
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3083
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu222Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

19-1806640-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1806640
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1806640
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 21882
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.505C>T
  hgvsp: ENST00000526092.2:c.505C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*291C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.505C>T
  hgvsp: ENST00000525591.1:c.505C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.664C>T
  hgvsp: ENST00000539485.1:c.664C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.664C>T
  hgvsp: ENST00000310127.6:c.664C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.552C>T
  hgvsp: ENST00000533993.2:c.552C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20703
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25913
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1521
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17451
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24768
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu222Leu
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

19-1806659-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1806659
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1806659
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 23106
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.645C>A
  hgvsp: ENSP00000443574.1:p.Asn215Lys
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.645C>A
  hgvsp: ENSP00000311336.6:p.Asn215Lys
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.486C>A
  hgvsp: ENSP00000437115.1:p.Asn162Lys
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*272C>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.533C>A
  hgvsp: ENSP00000445883.1:p.Asn178Lys
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.486C>A
  hgvsp: ENSP00000445204.1:p.Asn162Lys
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22359
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24124
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1523
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1855
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asn215Lys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

19-1806667-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1806667
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1806667
    reference: chr 19
allele count: 2488
allele frequency: 1.007940366229136e-1
allele num: 24684
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.637G>A
  hgvsp: ENSP00000443574.1:p.Ala213Thr
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*264G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.637G>A
  hgvsp: ENSP00000311336.6:p.Ala213Thr
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.478G>A
  hgvsp: ENSP00000437115.1:p.Ala160Thr
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.478G>A
  hgvsp: ENSP00000445204.1:p.Ala160Thr
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.525G>A
  hgvsp: ENSP00000445883.1:p.Ala176Thr
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 2.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 114
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 104
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 99
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 2.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 3.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 22876
  bin: 7.5e0
  variant carriers: 1649
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.75e1
  variant carriers: 165
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 1.25e1
  variant carriers: 769
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 110
genotype depth: GenotypeDepth
  all individuals: 21969
  bin: 2.5e0
  variant carriers: 267
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 91
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 94
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 3.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.75e1
  variant carriers: 357
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.25e1
  variant carriers: 106
genotype quality: GenotypeQuality
  all individuals: 2385
  bin: 1.75e1
  variant carriers: 125
genotype quality: GenotypeQuality
  all individuals: 17657
  bin: 2.25e1
  variant carriers: 134
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 8.75e1
  variant carriers: 126
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 20592
  bin: 7.5e0
  variant carriers: 87
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 3.25e1
  variant carriers: 129
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 9.25e1
  variant carriers: 138
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.75e1
  variant carriers: 127
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 1.25e1
  variant carriers: 85
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 7.75e1
  variant carriers: 88
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 8.25e1
  variant carriers: 77
hgvs: p.Ala213Thr
num of homozygotes: 134
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/19-1806677-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1806677
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1806677
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 23590
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.627G>T
  hgvsp: ENSP00000311336.6:p.Lys209Asn
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.627G>T
  hgvsp: ENSP00000443574.1:p.Lys209Asn
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.515G>T
  hgvsp: ENSP00000445883.1:p.Lys172Asn
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.468G>T
  hgvsp: ENSP00000437115.1:p.Lys156Asn
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.468G>T
  hgvsp: ENSP00000445204.1:p.Lys156Asn
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*254G>T
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20853
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24907
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2000
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24468
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18543
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys209Asn
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP

19-1806696-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1806696
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1806696
    reference: chr 19
allele count: 4
allele frequency: 1.754385964912281e-4
allele num: 22800
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.504-8T>C
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.457-8T>C
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.616-8T>C
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.616-8T>C
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.457-8T>C
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*243-8T>C
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29606
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14753
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1489
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1560
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11608
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1990
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29313
  bin: 7.5e0
  variant carriers: 0
hgvs: c.616-8T>C
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum

19-1806698-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1806698
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1806698
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 22878
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.616-10C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.457-10C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*243-10C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.616-10C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.457-10C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.504-10C>T
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29699
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14747
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29601
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12181
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ

19-1806706-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1806706
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1806706
    reference: chr 19
allele count: 3
allele frequency: 1.341561577676415e-4
allele num: 22362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*243-18C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.616-18C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.616-18C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.457-18C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.504-18C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.457-18C>T
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31266
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 9278
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31326
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1599
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

19-1806710-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1806710
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1806708
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 21928
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.504-24_504-23delCT
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*243-24_*243-23delCT
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.616-24_616-23delCT
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.616-24_616-23delCT
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.457-24_457-23delCT
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.457-24_457-23delCT
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31789
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10971
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1719
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31620
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2207
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7455
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: CAG
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

19-1806714-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1806714
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1806714
    reference: chr 19
allele count: 2
allele frequency: 9.306654257794323e-5
allele num: 21490
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.616-26C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*243-26C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.504-26C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.457-26C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.616-26C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.457-26C>T
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31994
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10000
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5853
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3856
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2022
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

19-1806716-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1806716
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1806716
    reference: chr 19
allele count: 1
allele frequency: 4.719652633566169e-5
allele num: 21188
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.457-28C>G
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.616-28C>G
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*243-28C>G
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.504-28C>G
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.616-28C>G
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.457-28C>G
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9458
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31994
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30547
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3609
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2234
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4829
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/19-1807117-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807117
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807118
    reference: chr 19
allele count: 1
allele frequency: 8.472565831836514e-6
allele num: 118028
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.456+49_456+50insT
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.456+49_456+50insT
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.615+49_615+50insT
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.615+49_615+50insT
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*242+49_*242+50insT
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.503+49_503+50insT
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6086
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4725
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7739
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3775
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4005
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28977
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3211
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3463
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

19-1807119-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807119
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807119
    reference: chr 19
allele count: 2
allele frequency: 1.692190540654878e-5
allele num: 118190
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.456+48C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.615+48C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.456+48C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*242+48C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.503+48C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.615+48C>T
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4730
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6087
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7173
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4298
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3361
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28973
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7857
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

19-1807122-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807122
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807122
    reference: chr 19
allele count: 4
allele frequency: 3.382206213112813e-5
allele num: 118266
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.456+45G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.615+45G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.456+45G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.615+45G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.503+45G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*242+45G>A
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7182
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6095
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3627
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4729
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2219
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4321
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3505
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3381
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

19-1807123-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807123
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807123
    reference: chr 19
allele count: 48
allele frequency: 4.054396486189712e-4
allele num: 118390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.456+44C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*242+44C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.456+44C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.615+44C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.615+44C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.503+44C>T
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7803
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6103
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4728
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7160
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4456
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7187
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3620
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7927
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2654
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3410
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9014
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4420
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 7.5e0
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/19-1807125-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807125
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807125
    reference: chr 19
allele count: 2
allele frequency: 1.688533171234149e-5
allele num: 118446
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.615+42G>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.456+42G>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.456+42G>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*242+42G>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.615+42G>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.503+42G>T
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7256
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3621
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7818
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7970
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4728
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4566
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9224
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3423
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3571
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2269
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-1807128-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807128
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807128
    reference: chr 19
allele count: 1
allele frequency: 8.441098018030185e-6
allele num: 118468
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.503+39G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.456+39G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.456+39G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.615+39G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*242+39G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.615+39G>A
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8030
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7347
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3623
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7841
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2653
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2267
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29011
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9486
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD

19-1807129-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807129
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807129
    reference: chr 19
allele count: 3
allele frequency: 2.531560116114224e-5
allele num: 118504
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*242+38C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.615+38C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.456+38C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.456+38C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.503+38C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.615+38C>T
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8082
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7408
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7199
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7848
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4730
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9643
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2043
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3266
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29021
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3430
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD

19-1807129-GCTCC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807129
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807125
    reference: chr 19
allele count: 1
allele frequency: 8.438533720380746e-6
allele num: 118504
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.615+34_615+37delGGAG
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.503+34_503+37delGGAG
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*242+34_*242+37delGGAG
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.456+34_456+37delGGAG
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.456+34_456+37delGGAG
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.615+34_615+37delGGAG
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8082
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7199
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4730
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7408
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7848
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2043
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3580
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3430
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9643
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: GCTCC
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD

19-1807134-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807134
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807134
    reference: chr 19
allele count: 21
allele frequency: 1.769255396228959e-4
allele num: 118694
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.615+33G>C
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*242+33G>C
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.456+33G>C
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.615+33G>C
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.456+33G>C
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.503+33G>C
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8139
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7191
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3623
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2654
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6108
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5136
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4726
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7534
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3594
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4624
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29054
  bin: 9.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

19-1807136-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807136
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807136
    reference: chr 19
allele count: 19569
allele frequency: 1.646363009203951e-1
allele num: 118862
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.615+31G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.456+31G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.615+31G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.456+31G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.503+31G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*242+31G>A
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4794
  bin: 4.75e1
  variant carriers: 721
genotype depth: GenotypeDepth
  all individuals: 5786
  bin: 4.25e1
  variant carriers: 671
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.75e1
  variant carriers: 163
genotype depth: GenotypeDepth
  all individuals: 6493
  bin: 2.75e1
  variant carriers: 333
genotype depth: GenotypeDepth
  all individuals: 3775
  bin: 5.25e1
  variant carriers: 827
genotype depth: GenotypeDepth
  all individuals: 3213
  bin: 5.75e1
  variant carriers: 1018
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 1.25e1
  variant carriers: 110
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 6.25e1
  variant carriers: 1074
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 6.75e1
  variant carriers: 1198
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 8.75e1
  variant carriers: 1084
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.5e0
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 9.25e1
  variant carriers: 958
genotype depth: GenotypeDepth
  all individuals: 4108
  bin: 2.25e1
  variant carriers: 257
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 8.25e1
  variant carriers: 1175
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 2.5e0
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 7.75e1
  variant carriers: 1273
genotype depth: GenotypeDepth
  all individuals: 4834
  bin: 9.75e1
  variant carriers: 4655
genotype depth: GenotypeDepth
  all individuals: 6432
  bin: 3.75e1
  variant carriers: 527
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 7.25e1
  variant carriers: 1301
genotype depth: GenotypeDepth
  all individuals: 6965
  bin: 3.25e1
  variant carriers: 474
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 1840
  bin: 7.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 2.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 3.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 1588
  bin: 8.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 2719
  bin: 8.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 3800
  bin: 6.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 8843
  bin: 6.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.75e1
  variant carriers: 8
num of homozygotes: 1760
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

19-1807140-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807140
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807140
    reference: chr 19
allele count: 1
allele frequency: 8.399408681628814e-6
allele num: 119056
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.615+27G>C
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.503+27G>C
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.615+27G>C
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.456+27G>C
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*242+27G>C
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.456+27G>C
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7229
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4554
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3239
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9128
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5935
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8361
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12234
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3768
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5340
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

19-1807140-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807140
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807140
    reference: chr 19
allele count: 52
allele frequency: 4.367692514446983e-4
allele num: 119056
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.456+27G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.615+27G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*242+27G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.503+27G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.615+27G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.456+27G>A
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3239
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7229
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 9128
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8361
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8463
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5935
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 12234
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25191
  bin: 9.75e1
  variant carriers: 52
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP

19-1807142-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807142
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807142
    reference: chr 19
allele count: 1
allele frequency: 8.395177809866013e-6
allele num: 119116
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.615+25C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.456+25C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.503+25C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.456+25C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*242+25C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.615+25C>T
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4623
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9155
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8483
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4405
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5938
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25161
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2199
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4022
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3768
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12369
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

19-1807144-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807144
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807144
    reference: chr 19
allele count: 1
allele frequency: 8.39348665435622e-6
allele num: 119140
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.615+23G>C
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.503+23G>C
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.615+23G>C
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.456+23G>C
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.456+23G>C
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*242+23G>C
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4405
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9171
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5938
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5366
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3505
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25160
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

19-1807146-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807146
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807146
    reference: chr 19
allele count: 2
allele frequency: 1.678105754224631e-5
allele num: 119182
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.615+21C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.503+21C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.615+21C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.456+21C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.456+21C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*242+21C>T
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8516
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5938
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4405
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3765
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25160
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12501
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5378
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/19-1807154-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807154
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807154
    reference: chr 19
allele count: 2
allele frequency: 1.675350567106167e-5
allele num: 119378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.503+13G>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.615+13G>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.615+13G>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.456+13G>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.456+13G>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*242+13G>T
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9188
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3502
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4031
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5405
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2195
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12696
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25161
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD

19-1807157-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807157
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807157
    reference: chr 19
allele count: 1
allele frequency: 8.373105584861425e-6
allele num: 119430
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.615+10G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.456+10G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.456+10G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*242+10G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.503+10G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.615+10G>A
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4902
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9190
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5936
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4030
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12790
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3768
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2196
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

19-1807161-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807161
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807161
    reference: chr 19
allele count: 1
allele frequency: 8.369321415419637e-6
allele num: 119484
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.615+6T>C
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.615+6T>C
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.503+6T>C
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*242+6T>C
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.456+6T>C
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.456+6T>C
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5936
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12837
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.25e1
  variant carriers: 0
hgvs: c.615+6T>C
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

19-1807169-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807169
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807169
    reference: chr 19
allele count: 1
allele frequency: 8.359806052499582e-6
allele num: 119620
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.613A>G
  hgvsp: ENSP00000311336.6:p.Met205Val
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.613A>G
  hgvsp: ENSP00000443574.1:p.Met205Val
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*240A>G
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000465027
  ensembl transcript: ENST00000587160
  gene symbol: ATP8B3
  hgvsc: ENST00000587160.2:c.613A>G
  hgvsp: ENSP00000465027.2:p.Met205Val
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.454A>G
  hgvsp: ENSP00000445204.1:p.Met152Val
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.454A>G
  hgvsp: ENSP00000437115.1:p.Met152Val
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.501A>G
  hgvsp: ENSP00000445883.1:p.Met168Val
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5936
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5430
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25159
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4025
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Met205Val
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-1807172-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807172
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807172
    reference: chr 19
allele count: 1
allele frequency: 8.357849692431131e-6
allele num: 119648
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000465027
  ensembl transcript: ENST00000587160
  gene symbol: ATP8B3
  hgvsc: ENST00000587160.2:c.610G>A
  hgvsp: ENSP00000465027.2:p.Asp204Asn
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.498G>A
  hgvsp: ENSP00000445883.1:p.Asp167Asn
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*237G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.451G>A
  hgvsp: ENSP00000437115.1:p.Asp151Asn
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.610G>A
  hgvsp: ENSP00000311336.6:p.Asp204Asn
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.451G>A
  hgvsp: ENSP00000445204.1:p.Asp151Asn
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.610G>A
  hgvsp: ENSP00000443574.1:p.Asp204Asn
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5046
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5936
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2540
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5433
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25158
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp204Asn
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

19-1807173-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807173
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807173
    reference: chr 19
allele count: 6
allele frequency: 5.014123113436179e-5
allele num: 119662
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.450C>T
  hgvsp: ENST00000526092.2:c.450C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.450C>T
  hgvsp: ENST00000525591.1:c.450C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*236C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.609C>T
  hgvsp: ENST00000539485.1:c.609C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000465027
  ensembl transcript: ENST00000587160
  gene symbol: ATP8B3
  hgvsc: ENST00000587160.2:c.609C>T
  hgvsp: ENST00000587160.2:c.609C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.497C>T
  hgvsp: ENST00000533993.2:c.497C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.609C>T
  hgvsp: ENST00000310127.6:c.609C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5035
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8691
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5936
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 9213
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2195
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12982
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3768
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp203Asp
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

19-1807182-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807182
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807182
    reference: chr 19
allele count: 1
allele frequency: 8.350172848577966e-6
allele num: 119758
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.488C>T
  hgvsp: ENST00000533993.2:c.488C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.441C>T
  hgvsp: ENST00000526092.2:c.441C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.600C>T
  hgvsp: ENST00000539485.1:c.600C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*227C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.441C>T
  hgvsp: ENST00000525591.1:c.441C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.600C>T
  hgvsp: ENST00000310127.6:c.600C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000465027
  ensembl transcript: ENST00000587160
  gene symbol: ATP8B3
  hgvsc: ENST00000587160.2:c.600C>T
  hgvsp: ENST00000587160.2:c.600C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5065
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5459
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25153
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13059
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp200Asp
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

19-1807186-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807186
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807186
    reference: chr 19
allele count: 1
allele frequency: 8.348220994106157e-6
allele num: 119786
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.596G>A
  hgvsp: ENSP00000443574.1:p.Arg199Gln
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000465027
  ensembl transcript: ENST00000587160
  gene symbol: ATP8B3
  hgvsc: ENST00000587160.2:c.596G>A
  hgvsp: ENSP00000465027.2:p.Arg199Gln
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.484G>A
  hgvsp: ENSP00000445883.1:p.Arg162Gln
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.437G>A
  hgvsp: ENSP00000445204.1:p.Arg146Gln
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*223G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.596G>A
  hgvsp: ENSP00000311336.6:p.Arg199Gln
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.437G>A
  hgvsp: ENSP00000437115.1:p.Arg146Gln
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5936
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4028
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5459
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg199Gln
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

19-1807187-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807187
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807187
    reference: chr 19
allele count: 1
allele frequency: 8.34640937468701e-6
allele num: 119812
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.436C>T
  hgvsp: ENSP00000437115.1:p.Arg146Trp
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.595C>T
  hgvsp: ENSP00000443574.1:p.Arg199Trp
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.595C>T
  hgvsp: ENSP00000311336.6:p.Arg199Trp
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*222C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000465027
  ensembl transcript: ENST00000587160
  gene symbol: ATP8B3
  hgvsc: ENST00000587160.2:c.595C>T
  hgvsp: ENSP00000465027.2:p.Arg199Trp
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.436C>T
  hgvsp: ENSP00000445204.1:p.Arg146Trp
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.483C>T
  hgvsp: ENSP00000445883.1:p.Arg162Trp
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9224
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8742
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5936
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13099
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg199Trp
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP

19-1807188-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807188
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807188
    reference: chr 19
allele count: 2
allele frequency: 1.669114701562291e-5
allele num: 119824
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.435C>T
  hgvsp: ENST00000526092.2:c.435C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*221C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.435C>T
  hgvsp: ENST00000525591.1:c.435C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.482C>T
  hgvsp: ENST00000533993.2:c.482C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.594C>T
  hgvsp: ENST00000539485.1:c.594C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000465027
  ensembl transcript: ENST00000587160
  gene symbol: ATP8B3
  hgvsc: ENST00000587160.2:c.594C>T
  hgvsp: ENST00000587160.2:c.594C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.594C>T
  hgvsp: ENST00000310127.6:c.594C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5936
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8747
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9225
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2544
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13109
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3502
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5457
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr198Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

19-1807195-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807195
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807195
    reference: chr 19
allele count: 5
allele frequency: 4.171672673875317e-5
allele num: 119856
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.428G>A
  hgvsp: ENSP00000437115.1:p.Arg143His
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.587G>A
  hgvsp: ENSP00000311336.6:p.Arg196His
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.475G>A
  hgvsp: ENSP00000445883.1:p.Arg159His
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.428G>A
  hgvsp: ENSP00000445204.1:p.Arg143His
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000465027
  ensembl transcript: ENST00000587160
  gene symbol: ATP8B3
  hgvsc: ENST00000587160.2:c.587G>A
  hgvsp: ENSP00000465027.2:p.Arg196His
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.587G>A
  hgvsp: ENSP00000443574.1:p.Arg196His
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*214G>A
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8771
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9230
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5935
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2547
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13129
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3502
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25153
  bin: 9.75e1
  variant carriers: 5
hgvs: p.Arg196His
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

19-1807196-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807196
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807196
    reference: chr 19
allele count: 2
allele frequency: 1.668390670359371e-5
allele num: 119876
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.427C>T
  hgvsp: ENSP00000437115.1:p.Arg143Cys
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.586C>T
  hgvsp: ENSP00000311336.6:p.Arg196Cys
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.474C>T
  hgvsp: ENSP00000445883.1:p.Arg159Cys
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*213C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.586C>T
  hgvsp: ENSP00000443574.1:p.Arg196Cys
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000465027
  ensembl transcript: ENST00000587160
  gene symbol: ATP8B3
  hgvsc: ENST00000587160.2:c.586C>T
  hgvsp: ENSP00000465027.2:p.Arg196Cys
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.427C>T
  hgvsp: ENSP00000445204.1:p.Arg143Cys
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8770
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3503
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2547
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13122
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2199
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5450
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg196Cys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

19-1807203-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807203
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807203
    reference: chr 19
allele count: 1
allele frequency: 8.34125752798492e-6
allele num: 119886
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.579C>T
  hgvsp: ENST00000539485.1:c.579C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*206C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.420C>T
  hgvsp: ENST00000526092.2:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.579C>T
  hgvsp: ENST00000310127.6:c.579C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.467C>T
  hgvsp: ENST00000533993.2:c.467C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.420C>T
  hgvsp: ENST00000525591.1:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000465027
  ensembl transcript: ENST00000587160
  gene symbol: ATP8B3
  hgvsc: ENST00000587160.2:c.579C>T
  hgvsp: ENST00000587160.2:c.579C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7236
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3503
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25150
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4035
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu193Leu
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ

19-1807208-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807208
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807208
    reference: chr 19
allele count: 1
allele frequency: 8.341118377152009e-6
allele num: 119888
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.462C>T
  hgvsp: ENSP00000445883.1:p.Leu155Phe
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.415C>T
  hgvsp: ENSP00000437115.1:p.Leu139Phe
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000465027
  ensembl transcript: ENST00000587160
  gene symbol: ATP8B3
  hgvsc: ENST00000587160.2:c.574C>T
  hgvsp: ENSP00000465027.2:p.Leu192Phe
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.415C>T
  hgvsp: ENSP00000445204.1:p.Leu139Phe
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*201C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.574C>T
  hgvsp: ENSP00000311336.6:p.Leu192Phe
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.574C>T
  hgvsp: ENSP00000443574.1:p.Leu192Phe
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5082
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13153
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu192Phe
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-1807211-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807211
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807211
    reference: chr 19
allele count: 1
allele frequency: 8.341396683460679e-6
allele num: 119884
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*198T>G
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.412T>G
  hgvsp: ENSP00000437115.1:p.Cys138Gly
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.571T>G
  hgvsp: ENSP00000443574.1:p.Cys191Gly
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.571T>G
  hgvsp: ENSP00000311336.6:p.Cys191Gly
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000465027
  ensembl transcript: ENST00000587160
  gene symbol: ATP8B3
  hgvsc: ENST00000587160.2:c.571T>G
  hgvsp: ENSP00000465027.2:p.Cys191Gly
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.459T>G
  hgvsp: ENSP00000445883.1:p.Cys154Gly
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.412T>G
  hgvsp: ENSP00000445204.1:p.Cys138Gly
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4405
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3769
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4038
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Cys191Gly
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/19-1807214-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807214
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807214
    reference: chr 19
allele count: 7
allele frequency: 5.838880269589443e-5
allele num: 119886
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.409G>T
  hgvsp: ENSP00000437115.1:p.Val137Phe
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.568G>T
  hgvsp: ENSP00000443574.1:p.Val190Phe
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*195G>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.409G>T
  hgvsp: ENSP00000445204.1:p.Val137Phe
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.568G>T
  hgvsp: ENSP00000311336.6:p.Val190Phe
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.456G>T
  hgvsp: ENSP00000445883.1:p.Val153Phe
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000465027
  ensembl transcript: ENST00000587160
  gene symbol: ATP8B3
  hgvsc: ENST00000587160.2:c.568G>T
  hgvsp: ENSP00000465027.2:p.Val190Phe
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8365
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8787
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5936
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4405
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13144
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3772
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5455
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val190Phe
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-1807217-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807217
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807217
    reference: chr 19
allele count: 2
allele frequency: 1.66841850609807e-5
allele num: 119874
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.406A>G
  hgvsp: ENSP00000437115.1:p.Met136Val
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.406A>G
  hgvsp: ENSP00000445204.1:p.Met136Val
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.565A>G
  hgvsp: ENSP00000443574.1:p.Met189Val
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.565A>G
  hgvsp: ENSP00000311336.6:p.Met189Val
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.453A>G
  hgvsp: ENSP00000445883.1:p.Met152Val
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000465027
  ensembl transcript: ENST00000587160
  gene symbol: ATP8B3
  hgvsc: ENST00000587160.2:c.565A>G
  hgvsp: ENSP00000465027.2:p.Met189Val
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*192A>G
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4405
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5936
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5452
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25148
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3501
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Met189Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

19-1807219-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807219
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807219
    reference: chr 19
allele count: 6
allele frequency: 5.005005005005005e-5
allele num: 119880
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.404C>G
  hgvsp: ENSP00000445204.1:p.Pro135Arg
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000465027
  ensembl transcript: ENST00000587160
  gene symbol: ATP8B3
  hgvsc: ENST00000587160.2:c.563C>G
  hgvsp: ENSP00000465027.2:p.Pro188Arg
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.404C>G
  hgvsp: ENSP00000437115.1:p.Pro135Arg
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*190C>G
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.563C>G
  hgvsp: ENSP00000311336.6:p.Pro188Arg
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.563C>G
  hgvsp: ENSP00000443574.1:p.Pro188Arg
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.451C>G
  hgvsp: ENSP00000445883.1:p.Pro151Arg
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8795
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5935
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5451
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2547
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro188Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-1807222-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807222
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807222
    reference: chr 19
allele count: 2
allele frequency: 1.668223675430402e-5
allele num: 119888
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.560C>T
  hgvsp: ENSP00000443574.1:p.Thr187Ile
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.560C>T
  hgvsp: ENSP00000311336.6:p.Thr187Ile
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000465027
  ensembl transcript: ENST00000587160
  gene symbol: ATP8B3
  hgvsc: ENST00000587160.2:c.560C>T
  hgvsp: ENSP00000465027.2:p.Thr187Ile
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.448C>T
  hgvsp: ENSP00000445883.1:p.Thr150Ile
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*187C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.401C>T
  hgvsp: ENSP00000437115.1:p.Thr134Ile
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.401C>T
  hgvsp: ENSP00000445204.1:p.Thr134Ile
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5936
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5040
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4405
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8798
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25145
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5453
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4037
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr187Ile
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

19-1807230-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807230
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807230
    reference: chr 19
allele count: 1
allele frequency: 8.343206127250579e-6
allele num: 119858
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.393G>A
  hgvsp: ENST00000525591.1:c.393G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.552G>A
  hgvsp: ENST00000310127.6:c.552G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000465027
  ensembl transcript: ENST00000587160
  gene symbol: ATP8B3
  hgvsc: ENST00000587160.2:c.552G>A
  hgvsp: ENST00000587160.2:c.552G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.393G>A
  hgvsp: ENST00000526092.2:c.393G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.440G>A
  hgvsp: ENST00000533993.2:c.440G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.552G>A
  hgvsp: ENST00000539485.1:c.552G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*179G>A
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4405
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8807
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5012
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2546
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3501
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser184Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum

19-1807231-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807231
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807231
    reference: chr 19
allele count: 1
allele frequency: 8.343206127250579e-6
allele num: 119858
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.551C>T
  hgvsp: ENSP00000443574.1:p.Ser184Leu
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000465027
  ensembl transcript: ENST00000587160
  gene symbol: ATP8B3
  hgvsc: ENST00000587160.2:c.551C>T
  hgvsp: ENSP00000465027.2:p.Ser184Leu
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.392C>T
  hgvsp: ENSP00000437115.1:p.Ser131Leu
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.392C>T
  hgvsp: ENSP00000445204.1:p.Ser131Leu
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.551C>T
  hgvsp: ENSP00000311336.6:p.Ser184Leu
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*178C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.439C>T
  hgvsp: ENSP00000445883.1:p.Ser147Leu
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4405
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2547
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25144
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3771
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser184Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum

19-1807233-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807233
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807233
    reference: chr 19
allele count: 1
allele frequency: 8.343902276216541e-6
allele num: 119848
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.390C>G
  hgvsp: ENSP00000445204.1:p.Phe130Leu
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.549C>G
  hgvsp: ENSP00000311336.6:p.Phe183Leu
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*176C>G
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.390C>G
  hgvsp: ENSP00000437115.1:p.Phe130Leu
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.437C>G
  hgvsp: ENSP00000445883.1:p.Phe146Leu
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.549C>G
  hgvsp: ENSP00000443574.1:p.Phe183Leu
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000465027
  ensembl transcript: ENST00000587160
  gene symbol: ATP8B3
  hgvsc: ENST00000587160.2:c.549C>G
  hgvsp: ENSP00000465027.2:p.Phe183Leu
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4405
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8814
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13094
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2547
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4035
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Phe183Leu
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

19-1807236-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807236
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807236
    reference: chr 19
allele count: 2
allele frequency: 1.669003271246412e-5
allele num: 119832
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.434G>A
  hgvsp: ENSP00000445883.1:p.Trp145Ter
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*173G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.387G>A
  hgvsp: ENSP00000437115.1:p.Trp129Ter
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000465027
  ensembl transcript: ENST00000587160
  gene symbol: ATP8B3
  hgvsc: ENST00000587160.2:c.546G>A
  hgvsp: ENSP00000465027.2:p.Trp182Ter
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.546G>A
  hgvsp: ENSP00000311336.6:p.Trp182Ter
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.546G>A
  hgvsp: ENSP00000443574.1:p.Trp182Ter
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.387G>A
  hgvsp: ENSP00000445204.1:p.Trp129Ter
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8807
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4983
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4405
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2545
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25144
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3772
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Trp182Ter
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

19-1807239-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807239
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807239
    reference: chr 19
allele count: 1
allele frequency: 8.346688034188035e-6
allele num: 119808
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000465027
  ensembl transcript: ENST00000587160
  gene symbol: ATP8B3
  hgvsc: ENST00000587160.2:c.543C>T
  hgvsp: ENST00000587160.2:c.543C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.384C>T
  hgvsp: ENST00000525591.1:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.431C>T
  hgvsp: ENST00000533993.2:c.431C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.543C>T
  hgvsp: ENST00000310127.6:c.543C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.543C>T
  hgvsp: ENST00000539485.1:c.543C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.384C>T
  hgvsp: ENST00000526092.2:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*170C>T
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4963
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7238
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4405
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3500
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13071
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5442
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro181Pro
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ

19-1807241-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807241
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807241
    reference: chr 19
allele count: 1
allele frequency: 8.346827370916315e-6
allele num: 119806
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.429C>T
  hgvsp: ENSP00000445883.1:p.Pro144Ser
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.382C>T
  hgvsp: ENSP00000437115.1:p.Pro128Ser
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000465027
  ensembl transcript: ENST00000587160
  gene symbol: ATP8B3
  hgvsc: ENST00000587160.2:c.541C>T
  hgvsp: ENSP00000465027.2:p.Pro181Ser
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*168C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.382C>T
  hgvsp: ENSP00000445204.1:p.Pro128Ser
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.541C>T
  hgvsp: ENSP00000443574.1:p.Pro181Ser
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.541C>T
  hgvsp: ENSP00000311336.6:p.Pro181Ser
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4949
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4404
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8797
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13043
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3771
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro181Ser
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

19-1807245-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807245
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807245
    reference: chr 19
allele count: 2
allele frequency: 1.669978791269351e-5
allele num: 119762
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.537G>A
  hgvsp: ENST00000539485.1:c.537G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000465027
  ensembl transcript: ENST00000587160
  gene symbol: ATP8B3
  hgvsc: ENST00000587160.2:c.537G>A
  hgvsp: ENST00000587160.2:c.537G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*164G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.378G>A
  hgvsp: ENST00000526092.2:c.378G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.378G>A
  hgvsp: ENST00000525591.1:c.378G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.537G>A
  hgvsp: ENST00000310127.6:c.537G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.425G>A
  hgvsp: ENST00000533993.2:c.425G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7238
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9244
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5936
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3772
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5428
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4036
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2196
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr179Thr
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

19-1807246-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807246
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807246
    reference: chr 19
allele count: 5
allele frequency: 4.175156150840041e-5
allele num: 119756
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*163C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.536C>T
  hgvsp: ENSP00000311336.6:p.Thr179Met
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.377C>T
  hgvsp: ENSP00000445204.1:p.Thr126Met
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.536C>T
  hgvsp: ENSP00000443574.1:p.Thr179Met
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.424C>T
  hgvsp: ENSP00000445883.1:p.Thr142Met
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.377C>T
  hgvsp: ENSP00000437115.1:p.Thr126Met
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000465027
  ensembl transcript: ENST00000587160
  gene symbol: ATP8B3
  hgvsc: ENST00000587160.2:c.536C>T
  hgvsp: ENSP00000465027.2:p.Thr179Met
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7239
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5935
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25140
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr179Met
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

19-1807246-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807246
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807246
    reference: chr 19
allele count: 1
allele frequency: 8.350312301680083e-6
allele num: 119756
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*163C>G
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.424C>G
  hgvsp: ENSP00000445883.1:p.Thr142Arg
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.377C>G
  hgvsp: ENSP00000437115.1:p.Thr126Arg
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.377C>G
  hgvsp: ENSP00000445204.1:p.Thr126Arg
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.536C>G
  hgvsp: ENSP00000311336.6:p.Thr179Arg
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.536C>G
  hgvsp: ENSP00000443574.1:p.Thr179Arg
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000465027
  ensembl transcript: ENST00000587160
  gene symbol: ATP8B3
  hgvsc: ENST00000587160.2:c.536C>G
  hgvsp: ENSP00000465027.2:p.Thr179Arg
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5935
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3501
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3769
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr179Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD

19-1807246-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807246
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807246
    reference: chr 19
allele count: 3
allele frequency: 2.505093690504025e-5
allele num: 119756
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.424C>A
  hgvsp: ENSP00000445883.1:p.Thr142Lys
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.536C>A
  hgvsp: ENSP00000311336.6:p.Thr179Lys
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000465027
  ensembl transcript: ENST00000587160
  gene symbol: ATP8B3
  hgvsc: ENST00000587160.2:c.536C>A
  hgvsp: ENSP00000465027.2:p.Thr179Lys
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.536C>A
  hgvsp: ENSP00000443574.1:p.Thr179Lys
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.377C>A
  hgvsp: ENSP00000445204.1:p.Thr126Lys
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.377C>A
  hgvsp: ENSP00000437115.1:p.Thr126Lys
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*163C>A
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5935
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8789
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3769
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr179Lys
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

19-1807256-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807256
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807256
    reference: chr 19
allele count: 1
allele frequency: 8.359945827551038e-6
allele num: 119618
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*153G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.414G>A
  hgvsp: ENSP00000445883.1:p.Asp139Asn
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000465027
  ensembl transcript: ENST00000587160
  gene symbol: ATP8B3
  hgvsc: ENST00000587160.2:c.526G>A
  hgvsp: ENSP00000465027.2:p.Asp176Asn
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.526G>A
  hgvsp: ENSP00000443574.1:p.Asp176Asn
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.367G>A
  hgvsp: ENSP00000437115.1:p.Asp123Asn
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.367G>A
  hgvsp: ENSP00000445204.1:p.Asp123Asn
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.526G>A
  hgvsp: ENSP00000311336.6:p.Asp176Asn
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5938
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4404
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9225
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7240
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12735
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25138
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2530
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4030
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp176Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

19-1807257-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807257
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807257
    reference: chr 19
allele count: 3
allele frequency: 2.507816026616288e-5
allele num: 119626
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.413C>T
  hgvsp: ENST00000533993.2:c.413C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*152C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.366C>T
  hgvsp: ENST00000525591.1:c.366C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000465027
  ensembl transcript: ENST00000587160
  gene symbol: ATP8B3
  hgvsc: ENST00000587160.2:c.525C>T
  hgvsp: ENST00000587160.2:c.525C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.366C>T
  hgvsp: ENST00000526092.2:c.366C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.525C>T
  hgvsp: ENST00000310127.6:c.525C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.525C>T
  hgvsp: ENST00000539485.1:c.525C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5936
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9211
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3764
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12773
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5369
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro175Pro
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: G
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

19-1807270-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807270
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807270
    reference: chr 19
allele count: 10
allele frequency: 8.394754957102802e-5
allele num: 119122
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.517-5G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000465027
  ensembl transcript: ENST00000587160
  gene symbol: ATP8B3
  hgvsc: ENST00000587160.2:c.517-5G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.405-5G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.358-5G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.358-5G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*144-5G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.517-5G>A
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5935
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8365
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9012
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4404
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5205
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3498
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2493
  bin: 7.25e1
  variant carriers: 0
hgvs: c.517-5G>A
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ

19-1807271-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807271
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807271
    reference: chr 19
allele count: 12
allele frequency: 1.007167676632031e-4
allele num: 119146
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.517-6C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000465027
  ensembl transcript: ENST00000587160
  gene symbol: ATP8B3
  hgvsc: ENST00000587160.2:c.517-6C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.517-6C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.405-6C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.358-6C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.358-6C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*144-6C>T
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4225
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5934
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7236
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8986
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2494
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3752
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 7.5e0
  variant carriers: 0
hgvs: c.517-6C>T
num of homozygotes: 1
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-1807271-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807271
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807271
    reference: chr 19
allele count: 1
allele frequency: 8.393063971933595e-6
allele num: 119146
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*144-6C>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.517-6C>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.358-6C>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.358-6C>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.405-6C>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000465027
  ensembl transcript: ENST00000587160
  gene symbol: ATP8B3
  hgvsc: ENST00000587160.2:c.517-6C>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.517-6C>A
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5934
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4225
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8986
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3498
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25138
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2190
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 2.25e1
  variant carriers: 0
hgvs: c.517-6C>A
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD

19-1807272-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807272
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807272
    reference: chr 19
allele count: 1
allele frequency: 8.39602364320258e-6
allele num: 119104
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*144-7A>G
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.358-7A>G
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.517-7A>G
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.358-7A>G
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.517-7A>G
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000465027
  ensembl transcript: ENST00000587160
  gene symbol: ATP8B3
  hgvsc: ENST00000587160.2:c.517-7A>G
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.405-7A>G
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8968
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8324
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5934
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2493
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3754
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3998
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2190
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3502
  bin: 9.25e1
  variant carriers: 0
hgvs: c.517-7A>G
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

19-1807274-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1807274
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1807273
    reference: chr 19
allele count: 2
allele frequency: 1.681378730559058e-5
allele num: 118950
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445204
  ensembl transcript: ENST00000526092
  gene symbol: ATP8B3
  hgvsc: ENST00000526092.2:c.358-10delC
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.517-10delC
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.358-10delC
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000465027
  ensembl transcript: ENST00000587160
  gene symbol: ATP8B3
  hgvsc: ENST00000587160.2:c.517-10delC
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000445883
  ensembl transcript: ENST00000533993
  gene symbol: ATP8B3
  hgvsc: ENST00000533993.2:c.405-10delC
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.517-10delC
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*144-10delC
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5933
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4400
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25130
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5060
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3984
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: AG
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

GenotypeQuality
all individuals: 304
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 648
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 697
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1643
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 286
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2924
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1072
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15632
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1654
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1462
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.71e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.85e0

DP
type: SiteQuality
SIO_000300: 6.18585e5

GenotypeQuality
all individuals: 588
bin: 4.25e1
variant carriers: 588

GenotypeQuality
all individuals: 12761
bin: 1.75e1
variant carriers: 12761

GenotypeQuality
all individuals: 373
bin: 8.75e1
variant carriers: 373

GenotypeQuality
all individuals: 9299
bin: 2.25e1
variant carriers: 9299

GenotypeQuality
all individuals: 388
bin: 5.75e1
variant carriers: 388

GenotypeQuality
all individuals: 418
bin: 7.25e1
variant carriers: 418

GenotypeQuality
all individuals: 693
bin: 6.25e1
variant carriers: 693

GenotypeQuality
all individuals: 856
bin: 4.75e1
variant carriers: 856

African
type: Population
allele count: 3002
allele frequency: 1.0e0
allele num: 3002
num of homozygotes: 1501

Latino
type: Population
allele count: 1242
allele frequency: 1.0e0
allele num: 1242
num of homozygotes: 621

Other
type: Population
allele count: 304
allele frequency: 1.0e0
allele num: 304
num of homozygotes: 152

South Asian
type: Population
allele count: 8512
allele frequency: 1.0e0
allele num: 8512
num of homozygotes: 4256

European (Finnish)
type: Population
allele count: 1726
allele frequency: 1.0e0
allele num: 1726
num of homozygotes: 863

European (Non-Finnish)
type: Population
allele count: 16567
allele frequency: 9.999396426846934e-1
allele num: 16568
num of homozygotes: 8283

East Asian
type: Population
allele count: 1530
allele frequency: 1.0e0
allele num: 1530
num of homozygotes: 765

QD
type: SiteQuality
SIO_000300: 2.832e1

FS
type: SiteQuality
SIO_000300: 1.9817e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.12e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.133e0

DP
type: SiteQuality
SIO_000300: 6.23842e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.63e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.8e-1

GenotypeQuality
all individuals: 1300
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 952
bin: 4.75e1
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GenotypeQuality
all individuals: 825
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 264
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1138
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13286
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2604
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.99e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.36e-1

DP
type: SiteQuality
SIO_000300: 5.54807e5

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

QD
type: SiteQuality
SIO_000300: 7.35e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.589e0

GenotypeQuality
all individuals: 345
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 501
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.284026707755521e-4
allele num: 7788
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 618
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8692
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2190
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.35e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.35332e5

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

VQSLOD
type: SiteQuality
SIO_000300: -1.64e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.066e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.56e-1

QD
type: SiteQuality
SIO_000300: 1.192e1

GenotypeQuality
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bin: 1.75e1
variant carriers: 2

GenotypeQuality
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bin: 2.25e1
variant carriers: 4

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.25e1
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GenotypeQuality
all individuals: 544
bin: 8.25e1
variant carriers: 1

Latino
type: Population
allele count: 1
allele frequency: 2.347417840375587e-3
allele num: 426
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 640
num of homozygotes: 0

African
type: Population
allele count: 29
allele frequency: 1.314596554850408e-2
allele num: 2206
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7858
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 80
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8832
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.710000000000001e-2

DP
type: SiteQuality
SIO_000300: 4.62932e5

VQSLOD
type: SiteQuality
SIO_000300: 2.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.86e0

MQRankSum
type: SiteQuality
SIO_000300: -2.07e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.407e1

GenotypeQuality
all individuals: 1472
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 26
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GenotypeQuality
all individuals: 726
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 80
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 428
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8846
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2204
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 638
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.27000254000508e-4
allele num: 7874
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.70511e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.13e-1

QD
type: SiteQuality
SIO_000300: 8.890000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

MQRankSum
type: SiteQuality
SIO_000300: 4.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.42e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.87e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9100
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 666
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2220
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 94
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.093e1

VQSLOD
type: SiteQuality
SIO_000300: 3.72e0

DP
type: SiteQuality
SIO_000300: 5.03933e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.93e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 367
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variant carriers: 1

GenotypeQuality
all individuals: 571
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variant carriers: 0

GenotypeQuality
all individuals: 4375
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 3.25e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 702
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2244
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7924
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9382
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.46e-2

QD
type: SiteQuality
SIO_000300: 8.81e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.396e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

FS
type: SiteQuality
SIO_000300: 8.451000000000001e0

DP
type: SiteQuality
SIO_000300: 5.25537e5

GenotypeQuality
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bin: 4.25e1
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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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 126
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 502
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.464285714285714e-4
allele num: 2240
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9430
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7924
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.354e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.43e-2

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.035e0

FS
type: SiteQuality
SIO_000300: 8.121e0

VQSLOD
type: SiteQuality
SIO_000300: -9.185e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.98e-1

DP
type: SiteQuality
SIO_000300: 5.27863e5

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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bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 148
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7936
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 9674
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 742
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
SIO_000300: -2.093e0

QD
type: SiteQuality
SIO_000300: 1.182e1

DP
type: SiteQuality
SIO_000300: 5.41967e5

BaseQRankSum
type: SiteQuality
SIO_000300: -7.0e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.08e-2

MQRankSum
type: SiteQuality
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MQ
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SIO_000300: 5.902e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.83e-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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bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 566
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 9826
num of homozygotes: 0

African
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allele num: 2304
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South Asian
type: Population
allele count: 1
allele frequency: 1.258178158027177e-4
allele num: 7948
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.97e-2

FS
type: SiteQuality
SIO_000300: 6.429e0

MQRankSum
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DP
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SIO_000300: 5.48857e5

ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.071e1

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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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7952
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2316
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 166
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9902
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 574
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.82e-2

ClippingRankSum
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DP
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SIO_000300: 5.53112e5

MQRankSum
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FS
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BaseQRankSum
type: SiteQuality
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VQSLOD
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QD
type: SiteQuality
SIO_000300: 1.417e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 154
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4774
bin: 6.25e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 232
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 918
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 682
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10696
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2388
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7984
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.8177e5

QD
type: SiteQuality
SIO_000300: 9.220000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.54e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.18e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

GenotypeQuality
all individuals: 62
bin: 3.75e1
variant carriers: 18

GenotypeQuality
all individuals: 4331
bin: 6.25e1
variant carriers: 212

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 28

GenotypeQuality
all individuals: 2792
bin: 2.5e0
variant carriers: 5

GenotypeQuality
all individuals: 620
bin: 7.25e1
variant carriers: 129

GenotypeQuality
all individuals: 1553
bin: 6.75e1
variant carriers: 208

GenotypeQuality
all individuals: 81
bin: 5.25e1
variant carriers: 54

GenotypeQuality
all individuals: 3637
bin: 9.75e1
variant carriers: 2344

GenotypeQuality
all individuals: 330
bin: 2.75e1
variant carriers: 143

European (Non-Finnish)
type: Population
allele count: 1102
allele frequency: 9.467353951890034e-2
allele num: 11640
num of homozygotes: 37

Latino
type: Population
allele count: 130
allele frequency: 1.5625e-1
allele num: 832
num of homozygotes: 3

East Asian
type: Population
allele count: 186
allele frequency: 1.675675675675676e-1
allele num: 1110
num of homozygotes: 7

European (Finnish)
type: Population
allele count: 77
allele frequency: 2.319277108433735e-1
allele num: 332
num of homozygotes: 4

African
type: Population
allele count: 47
allele frequency: 1.946975973487987e-2
allele num: 2414
num of homozygotes: 0

South Asian
type: Population
allele count: 923
allele frequency: 1.134464110127827e-1
allele num: 8136
num of homozygotes: 80

Other
type: Population
allele count: 23
allele frequency: 1.045454545454545e-1
allele num: 220
num of homozygotes: 3

DP
type: SiteQuality
SIO_000300: 6.53644e5

FS
type: SiteQuality
SIO_000300: 1.106e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.096e0

QD
type: SiteQuality
SIO_000300: 1.181e1

VQSLOD
type: SiteQuality
SIO_000300: 4.48e0

GenotypeQuality
all individuals: 515
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1596
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1441
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4776
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2408
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 216
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8050
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10982
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 964
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 258
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 712
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

QD
type: SiteQuality
SIO_000300: 1.396e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.66e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.72552e5

GenotypeQuality
all individuals: 347
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4432
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1323
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1444
bin: 9.75e1
variant carriers: 4

African
type: Population
allele count: 4
allele frequency: 1.702127659574468e-3
allele num: 2350
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8000
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10576
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.39e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.559e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.78e-2

DP
type: SiteQuality
SIO_000300: 5.33923e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

MQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

FS
type: SiteQuality
SIO_000300: 3.587e0

QD
type: SiteQuality
SIO_000300: 1.304e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.33e-1

GenotypeQuality
all individuals: 347
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1560
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4465
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1441
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 100
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8006
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10616
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2356
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.74e-2

DP
type: SiteQuality
SIO_000300: 5.33863e5

QD
type: SiteQuality
SIO_000300: 7.07e0

VQSLOD
type: SiteQuality
SIO_000300: -1.006e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

FS
type: SiteQuality
SIO_000300: 1.158e0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 346
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1529
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4291
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.754693366708385e-4
allele num: 7990
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2314
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 166
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.426e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.401e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.23e-2

MQ
type: SiteQuality
SIO_000300: 5.962e1

QD
type: SiteQuality
SIO_000300: 1.349e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

VQSLOD
type: SiteQuality
SIO_000300: -1.599e0

MQRankSum
type: SiteQuality
SIO_000300: 2.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.82e-1

DP
type: SiteQuality
SIO_000300: 5.13717e5

GenotypeQuality
all individuals: 1515
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 995
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4121
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1436
bin: 9.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10008
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2278
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7962
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

QD
type: SiteQuality
SIO_000300: 1.433e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.213e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

DP
type: SiteQuality
SIO_000300: 5.01774e5

VQSLOD
type: SiteQuality
SIO_000300: 3.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.510000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

GenotypeQuality
all individuals: 1437
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2787
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31361
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 346
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1484
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9728
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.514458134272064e-4
allele num: 7954
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2232
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.563e0

MQ
type: SiteQuality
SIO_000300: 5.902e1

MQRankSum
type: SiteQuality
SIO_000300: -1.385e0

QD
type: SiteQuality
SIO_000300: 1.197e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.7e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.262e0

DP
type: SiteQuality
SIO_000300: 4.88483e5

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

GenotypeQuality
all individuals: 3654
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1436
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 47
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1458
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 708
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2218
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.258811681772407e-4
allele num: 7944
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.80098e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.859999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 9.25e-1

QD
type: SiteQuality
SIO_000300: 1.458e1

FS
type: SiteQuality
SIO_000300: 1.922e0

VQSLOD
type: SiteQuality
SIO_000300: -1.697e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.51e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.82e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

GenotypeQuality
all individuals: 1224
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1975
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2143
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6329
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3307
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 773
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.543019380323417e-5
allele num: 64808
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16342
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9414
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.74e-1

QD
type: SiteQuality
SIO_000300: 1.857e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.808e0

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

DP
type: SiteQuality
SIO_000300: 2.483857e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.17e-1

GenotypeQuality
all individuals: 717
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2006
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2192
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3228
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3510
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9438
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.34192037470726e-4
allele num: 8540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16360
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

DP
type: SiteQuality
SIO_000300: 2.492365e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.55e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.72e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

QD
type: SiteQuality
SIO_000300: 1.205e1

GenotypeQuality
all individuals: 628
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3236
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28985
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 8576
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2016
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.078722945722114e-5
allele num: 64962
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9454
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16362
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.34246896228625e-4
allele num: 8538
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.644e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.78e-1

DP
type: SiteQuality
SIO_000300: 2.498506e6

QD
type: SiteQuality
SIO_000300: 1.535e1

MQRankSum
type: SiteQuality
SIO_000300: 5.69e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.24e-1

GenotypeQuality
all individuals: 69
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29019
bin: 9.75e1
variant carriers: 48

GenotypeQuality
all individuals: 3240
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2259
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2015
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3549
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 11
allele frequency: 6.71222845984867e-4
allele num: 16388
num of homozygotes: 0

African
type: Population
allele count: 35
allele frequency: 3.697443481935347e-3
allele num: 9466
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.697164724299878e-5
allele num: 11498
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537704514700455e-5
allele num: 65032
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.99e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.77e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.53e0

DP
type: SiteQuality
SIO_000300: 2.503131e6

QD
type: SiteQuality
SIO_000300: 1.386e1

GenotypeQuality
all individuals: 515
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2028
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4447
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29005
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 313
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3250
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65062
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9476
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.21921482565228e-4
allele num: 16404
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.65e0

QD
type: SiteQuality
SIO_000300: 1.071e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.13e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

DP
type: SiteQuality
SIO_000300: 2.506057e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.25e-1

GenotypeQuality
all individuals: 131
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3424
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3578
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3253
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4511
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2035
bin: 8.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.536617597344725e-5
allele num: 65078
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

DP
type: SiteQuality
SIO_000300: 2.509952e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.452e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 1.438e1

GenotypeQuality
all individuals: 392
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3580
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2267
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4542
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.163222269084774e-4
allele num: 9484
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65110
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

FS
type: SiteQuality
SIO_000300: 4.187e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.3e-2

MQRankSum
type: SiteQuality
SIO_000300: -6.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

DP
type: SiteQuality
SIO_000300: 2.513008e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.32e-1

QD
type: SiteQuality
SIO_000300: 1.261e1

GenotypeQuality
all individuals: 126
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29021
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2267
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 634
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3266
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4542
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9484
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16402
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535862386730149e-5
allele num: 65110
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.73e-1

DP
type: SiteQuality
SIO_000300: 2.513008e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.3e-2

MQ
type: SiteQuality
SIO_000300: 5.958e1

MQRankSum
type: SiteQuality
SIO_000300: -6.23e-1

FS
type: SiteQuality
SIO_000300: 4.187e0

QD
type: SiteQuality
SIO_000300: 1.261e1

GenotypeQuality
all individuals: 67
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3458
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2053
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10108
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2286
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3274
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 21
allele frequency: 2.206345870981299e-3
allele num: 9518
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65202
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.28e-1

QD
type: SiteQuality
SIO_000300: 1.212e1

MQRankSum
type: SiteQuality
SIO_000300: 1.95e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.2e0

VQSLOD
type: SiteQuality
SIO_000300: 5.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.69e-1

DP
type: SiteQuality
SIO_000300: 2.519493e6

GenotypeQuality
all individuals: 294
bin: 7.5e0
variant carriers: 10

GenotypeQuality
all individuals: 54
bin: 1.25e1
variant carriers: 7

GenotypeQuality
all individuals: 58
bin: 5.75e1
variant carriers: 13

GenotypeQuality
all individuals: 62
bin: 5.25e1
variant carriers: 14

GenotypeQuality
all individuals: 136
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 2912
bin: 7.75e1
variant carriers: 18

GenotypeQuality
all individuals: 34499
bin: 9.75e1
variant carriers: 17655

GenotypeQuality
all individuals: 2521
bin: 9.25e1
variant carriers: 33

European (Non-Finnish)
type: Population
allele count: 10136
allele frequency: 1.551887803533699e-1
allele num: 65314
num of homozygotes: 845

South Asian
type: Population
allele count: 3207
allele frequency: 1.949544072948328e-1
allele num: 16450
num of homozygotes: 367

European (Finnish)
type: Population
allele count: 1180
allele frequency: 1.79004854368932e-1
allele num: 6592
num of homozygotes: 114

African
type: Population
allele count: 1847
allele frequency: 1.930392976588629e-1
allele num: 9568
num of homozygotes: 179

Latino
type: Population
allele count: 2046
allele frequency: 1.778202676864245e-1
allele num: 11506
num of homozygotes: 185

Other
type: Population
allele count: 158
allele frequency: 1.799544419134396e-1
allele num: 878
num of homozygotes: 16

East Asian
type: Population
allele count: 995
allele frequency: 1.163198503624036e-1
allele num: 8554
num of homozygotes: 54

VQSLOD
type: SiteQuality
SIO_000300: 5.83e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.86e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.86e-2

DP
type: SiteQuality
SIO_000300: 3.063125e6

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.344e0

QD
type: SiteQuality
SIO_000300: 1.673e1

GenotypeQuality
all individuals: 42
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4026
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2522
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25191
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 124
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3502
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65408
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.165501165501166e-4
allele num: 8580
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9602
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.491735e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.041e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.65e0

QD
type: SiteQuality
SIO_000300: 1.507e1

MQ
type: SiteQuality
SIO_000300: 5.97e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-1

GenotypeQuality
all individuals: 177
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2522
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5340
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3768
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3502
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4026
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528864970645792e-5
allele num: 65408
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

African
type: Population
allele count: 51
allele frequency: 5.311393459695897e-3
allele num: 9602
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.041e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.65e0

QD
type: SiteQuality
SIO_000300: 1.507e1

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-2

DP
type: SiteQuality
SIO_000300: 2.491735e6

GenotypeQuality
all individuals: 45
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9604
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65452
num of homozygotes: 0

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

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

East Asian
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allele count: 1
allele frequency: 1.164415463437354e-4
allele num: 8588
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.735e0

MQRankSum
type: SiteQuality
SIO_000300: -1.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-2

DP
type: SiteQuality
SIO_000300: 2.491478e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

FS
type: SiteQuality
SIO_000300: 3.684e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.02e-1

QD
type: SiteQuality
SIO_000300: 5.22e0

VQSLOD
type: SiteQuality
SIO_000300: -1.416e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65460
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.676036786395974e-5
allele num: 11526
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9618
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: 2.012e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.302e0

FS
type: SiteQuality
SIO_000300: 1.332e0

VQSLOD
type: SiteQuality
SIO_000300: -1.636e0

DP
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SIO_000300: 2.492287e6

ReadPosRankSum
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SIO_000300: 1.86e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -6.43e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.61e-1

GenotypeQuality
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bin: 3.25e1
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: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65482
num of homozygotes: 0

East Asian
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allele count: 2
allele frequency: 2.328288707799767e-4
allele num: 8590
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.472e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

FS
type: SiteQuality
SIO_000300: 6.389e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
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SIO_000300: 2.493266e6

MQRankSum
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SIO_000300: 1.5e0

ReadPosRankSum
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SIO_000300: 1.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.623e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.37e-1

QD
type: SiteQuality
SIO_000300: 1.587e1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Latino
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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: 8598
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9660
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65616
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.214034235765449e-4
allele num: 16474
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.213e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.34e-1

MQ
type: SiteQuality
SIO_000300: 5.913e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.24e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.089e-1

FS
type: SiteQuality
SIO_000300: 2.332e0

DP
type: SiteQuality
SIO_000300: 2.496338e6

QD
type: SiteQuality
SIO_000300: 9.09e0

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9670
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65656
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.156e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.62e0

FS
type: SiteQuality
SIO_000300: 3.567e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.528e0

DP
type: SiteQuality
SIO_000300: 2.497227e6

QD
type: SiteQuality
SIO_000300: 1.475e1

MQRankSum
type: SiteQuality
SIO_000300: -1.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.128e0

GenotypeQuality
all individuals: 2195
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 3502
bin: 9.25e1
variant carriers: 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: 16478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9672
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522023682688503e-5
allele num: 65702
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e0

DP
type: SiteQuality
SIO_000300: 2.498207e6

MQRankSum
type: SiteQuality
SIO_000300: -3.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.126e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.335e0

MQ
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SIO_000300: 5.97e1

QD
type: SiteQuality
SIO_000300: 1.319e1

VQSLOD
type: SiteQuality
SIO_000300: -1.24e-2

GenotypeQuality
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bin: 3.25e1
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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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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bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9702
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65790
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.162790697674419e-4
allele num: 8600
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.918e1

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.004e1

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.21e0

DP
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9700
num of homozygotes: 0

Latino
type: Population
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allele frequency: 8.656509695290859e-5
allele num: 11552
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South Asian
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East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 888
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65810
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

FS
type: SiteQuality
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VQSLOD
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DP
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MQ
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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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
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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: 6

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Latino
type: Population
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allele frequency: 0.0e0
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Other
type: Population
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allele num: 886
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East Asian
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allele frequency: 3.487561032318065e-4
allele num: 8602
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16490
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.557331226833567e-5
allele num: 65828
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
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FS
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517634917744187e-5
allele num: 65892
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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South Asian
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allele num: 16496
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BaseQRankSum
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
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FS
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.052e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

QD
type: SiteQuality
SIO_000300: 1.055e1

GenotypeQuality
all individuals: 13063
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3503
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25152
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2543
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3769
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65910
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9718
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.014e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.74e-1

FS
type: SiteQuality
SIO_000300: 8.96e-1

MQ
type: SiteQuality
SIO_000300: 5.929e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

DP
type: SiteQuality
SIO_000300: 2.502515e6

QD
type: SiteQuality
SIO_000300: 1.352e1

GenotypeQuality
all individuals: 19
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25151
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5458
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4028
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2543
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9724
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516760200212346e-5
allele num: 65930
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: 8608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

QD
type: SiteQuality
SIO_000300: 1.067e1

MQRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.96e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

FS
type: SiteQuality
SIO_000300: 1.185e0

DP
type: SiteQuality
SIO_000300: 2.50285e6

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3768
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 343
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25152
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4030
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.027749229188078e-4
allele num: 9730
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516714190377965e-5
allele num: 65932
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e-1

DP
type: SiteQuality
SIO_000300: 2.503597e6

MQRankSum
type: SiteQuality
SIO_000300: 3.97e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.98e0

QD
type: SiteQuality
SIO_000300: 1.356e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.216e0

MQ
type: SiteQuality
SIO_000300: 5.991e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.0e-1

GenotypeQuality
all individuals: 342
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 323
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variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5451
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variant carriers: 0

GenotypeQuality
all individuals: 3767
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9736
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.653513326410523e-5
allele num: 11556
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.064833065469873e-5
allele num: 65954
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.72e-1

QD
type: SiteQuality
SIO_000300: 1.052e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.224e0

DP
type: SiteQuality
SIO_000300: 2.504359e6

MQ
type: SiteQuality
SIO_000300: 5.912e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

GenotypeQuality
all individuals: 332
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 341
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variant carriers: 0

GenotypeQuality
all individuals: 25151
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 3767
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4032
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variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9738
num of homozygotes: 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: 11554
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16144018583043e-4
allele num: 8610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515794579518584e-5
allele num: 65972
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.83e-1

DP
type: SiteQuality
SIO_000300: 2.504043e6

FS
type: SiteQuality
SIO_000300: 5.052e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.87e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

VQSLOD
type: SiteQuality
SIO_000300: 7.74e-1

QD
type: SiteQuality
SIO_000300: 1.269e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.4e0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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
all individuals: 15
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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: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2198
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variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9740
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515610791148833e-5
allele num: 65980
num of homozygotes: 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: 11554
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

FS
type: SiteQuality
SIO_000300: 3.014e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.455e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.57e-1

DP
type: SiteQuality
SIO_000300: 2.504097e6

VQSLOD
type: SiteQuality
SIO_000300: 2.27e-1

QD
type: SiteQuality
SIO_000300: 1.036e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 4037
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5453
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65986
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.16144018583043e-4
allele num: 8610
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9738
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.504299e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

QD
type: SiteQuality
SIO_000300: 1.25e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e0

FS
type: SiteQuality
SIO_000300: 1.556e0

VQSLOD
type: SiteQuality
SIO_000300: 8.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.24e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.376e0

GenotypeQuality
all individuals: 370
bin: 2.25e1
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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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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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25149
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 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: 1
allele frequency: 1.515610791148833e-5
allele num: 65980
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9740
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: 16502
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.076e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.393e0

QD
type: SiteQuality
SIO_000300: 1.08e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

DP
type: SiteQuality
SIO_000300: 2.504376e6

MQ
type: SiteQuality
SIO_000300: 5.964e1

GenotypeQuality
all individuals: 2546
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 313
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variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
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GenotypeQuality
all individuals: 25153
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 4036
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3501
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65984
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.241910071506484e-4
allele num: 16502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9738
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.875e0

FS
type: SiteQuality
SIO_000300: 5.35e-1

QD
type: SiteQuality
SIO_000300: 1.032e1

DP
type: SiteQuality
SIO_000300: 2.504483e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.79e-1

GenotypeQuality
all individuals: 2197
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13154
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4035
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2548
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3772
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.031497256494983e-5
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num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

ClippingRankSum
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InbreedingCoeff
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FS
type: SiteQuality
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MQRankSum
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VQSLOD
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BaseQRankSum
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DP
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QD
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MQ
type: SiteQuality
SIO_000300: 5.921e1

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 6

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65974
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 9738
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South Asian
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allele count: 6
allele frequency: 3.635922918434129e-4
allele num: 16502
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

InbreedingCoeff
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QD
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MQRankSum
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ClippingRankSum
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FS
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DP
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MQ
type: SiteQuality
SIO_000300: 5.945e1

VQSLOD
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e-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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GenotypeQuality
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Latino
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allele frequency: 1.730403183941858e-4
allele num: 11558
num of homozygotes: 0

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: 6612
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9744
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East Asian
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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 frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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QD
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DP
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FS
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.961e1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9746
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.516116316443798e-5
allele num: 65958
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

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

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.948e1

BaseQRankSum
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SIO_000300: 2.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.3e-1

FS
type: SiteQuality
SIO_000300: 4.855e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 2.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.16e-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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GenotypeQuality
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variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.516070345664039e-5
allele num: 65960
num of homozygotes: 0

East Asian
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.417e0

DP
type: SiteQuality
SIO_000300: 2.504053e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.968e1

QD
type: SiteQuality
SIO_000300: 1.278e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.46e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.504e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.72e-1

MQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.516346212167162e-5
allele num: 65948
num of homozygotes: 0

South Asian
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 6.581e0

VQSLOD
type: SiteQuality
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ClippingRankSum
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DP
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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MQ
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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Other
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Latino
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allele frequency: 1.730702665282105e-4
allele num: 11556
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South Asian
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European (Finnish)
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European (Non-Finnish)
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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FS
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DP
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MQRankSum
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QD
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BaseQRankSum
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VQSLOD
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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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GenotypeQuality
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South Asian
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European (Non-Finnish)
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allele num: 65926
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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Other
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African
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FS
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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MQRankSum
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VQSLOD
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DP
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ClippingRankSum
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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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GenotypeQuality
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East Asian
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African
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Latino
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South Asian
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Other
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European (Finnish)
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European (Non-Finnish)
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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DP
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QD
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VQSLOD
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MQ
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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allele frequency: 1.731002250302925e-4
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Other
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European (Non-Finnish)
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European (Finnish)
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South Asian
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East Asian
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FS
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MQ
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DP
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.84e0

MQRankSum
type: SiteQuality
SIO_000300: 3.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.8e-2

QD
type: SiteQuality
SIO_000300: 1.192e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

GenotypeQuality
all individuals: 3501
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3769
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13013
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5430
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4036
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2540
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.070171178827243e-5
allele num: 65896
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9744
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.161170459823502e-4
allele num: 8612
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.969e1

FS
type: SiteQuality
SIO_000300: 1.946e0

QD
type: SiteQuality
SIO_000300: 1.134e1

VQSLOD
type: SiteQuality
SIO_000300: 2.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.84e-1

DP
type: SiteQuality
SIO_000300: 2.503061e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.047e0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2540
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4036
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25140
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 13013
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5430
bin: 6.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9744
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65896
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.047e0

MQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

MQ
type: SiteQuality
SIO_000300: 5.969e1

FS
type: SiteQuality
SIO_000300: 1.946e0

VQSLOD
type: SiteQuality
SIO_000300: 2.46e0

DP
type: SiteQuality
SIO_000300: 2.503061e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.84e-1

QD
type: SiteQuality
SIO_000300: 1.134e1

GenotypeQuality
all individuals: 36
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3501
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2197
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2540
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4036
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5430
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13013
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 25140
bin: 9.75e1
variant carriers: 3

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9744
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.552628384120432e-5
allele num: 65896
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

DP
type: SiteQuality
SIO_000300: 2.503061e6

MQ
type: SiteQuality
SIO_000300: 5.969e1

FS
type: SiteQuality
SIO_000300: 1.946e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.047e0

MQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

QD
type: SiteQuality
SIO_000300: 1.134e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.46e0

GenotypeQuality
all individuals: 647
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2195
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3501
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5370
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3764
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518971959777622e-5
allele num: 65834
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9740
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16398
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e0

FS
type: SiteQuality
SIO_000300: 1.892e0

MQRankSum
type: SiteQuality
SIO_000300: 4.91e-1

DP
type: SiteQuality
SIO_000300: 2.498824e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.439e1

GenotypeQuality
all individuals: 2528
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 25137
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 80
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2194
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4028
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3502
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.0960741282614e-5
allele num: 16404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 2.052966536645453e-4
allele num: 9742
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65834
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.962e0

DP
type: SiteQuality
SIO_000300: 2.498776e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.27e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -8.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.090000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

QD
type: SiteQuality
SIO_000300: 1.223e1

GenotypeQuality
all individuals: 82
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 397
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2190
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3754
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4002
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11730
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25142
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 225
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9724
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.161710037174721e-4
allele num: 8608
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.094059405940594e-4
allele num: 16160
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.096259944524034e-5
allele num: 65614
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.65e0

QD
type: SiteQuality
SIO_000300: 1.252e1

MQRankSum
type: SiteQuality
SIO_000300: 2.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.379999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.3e-2

DP
type: SiteQuality
SIO_000300: 2.483362e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e0

MQ
type: SiteQuality
SIO_000300: 5.985e1

GenotypeQuality
all individuals: 2190
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5205
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25138
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 11813
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3498
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4002
bin: 7.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

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

East Asian
type: Population
allele count: 5
allele frequency: 5.808550185873606e-4
allele num: 8608
num of homozygotes: 1

African
type: Population
allele count: 3
allele frequency: 3.08641975308642e-4
allele num: 9720
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65618
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.471576866040534e-4
allele num: 16184
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-2

MQ
type: SiteQuality
SIO_000300: 5.966e1

VQSLOD
type: SiteQuality
SIO_000300: 4.21e0

QD
type: SiteQuality
SIO_000300: 1.392e1

DP
type: SiteQuality
SIO_000300: 2.483007e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.623e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.38e-1

GenotypeQuality
all individuals: 391
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5205
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11813
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2494
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 143
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4002
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3752
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523972080831479e-5
allele num: 65618
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9720
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16184
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.7e-3

FS
type: SiteQuality
SIO_000300: 6.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.38e-1

DP
type: SiteQuality
SIO_000300: 2.483007e6

VQSLOD
type: SiteQuality
SIO_000300: 4.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.623e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 1.392e1

GenotypeQuality
all individuals: 394
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25130
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11719
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5202
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524250830716703e-5
allele num: 65606
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9720
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.879999999999999e-1

FS
type: SiteQuality
SIO_000300: 6.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.409e0

DP
type: SiteQuality
SIO_000300: 2.481249e6

QD
type: SiteQuality
SIO_000300: 1.143e1

GenotypeQuality
all individuals: 195
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11101
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2473
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 76
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1386
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3501
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2190
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3749
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.668515950069348e-5
allele num: 11536
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65538
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.029230135858378e-4
allele num: 9716
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16080
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.27e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.52e-1

DP
type: SiteQuality
SIO_000300: 2.475255e6

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

MQ
type: SiteQuality
SIO_000300: 6.03e1

FS
type: SiteQuality
SIO_000300: 3.733e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.4e-1