19-1789968-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1789968
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1789968
    reference: chr 19
allele count: 1
allele frequency: 8.454371755634839e-6
allele num: 118282
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.2288G>A
  hgvsp: ENSP00000437115.1:p.Trp763Ter
  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.2399G>A
  hgvsp: ENSP00000311336.6:p.Trp800Ter
  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.*2395G>A
  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.2429G>A
  hgvsp: ENSP00000443574.1:p.Trp810Ter
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000439993
  ensembl transcript: ENST00000526847
  gene symbol: ATP8B3
  hgvsc: ENST00000526847.1:c.62-242G>A
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16616
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34090
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1965
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7982
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43629
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Trp800Ter
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD

19-1789988-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1789988
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1789988
    reference: chr 19
allele count: 2
allele frequency: 1.705727834066796e-5
allele num: 117252
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.2379C>T
  hgvsp: ENST00000310127.6:c.2379C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.2268C>T
  hgvsp: ENST00000525591.1:c.2268C>T(p.%3D)
  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.*2375C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.2409C>T
  hgvsp: ENST00000539485.1:c.2409C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000439993
  ensembl transcript: ENST00000526847
  gene symbol: ATP8B3
  hgvsc: ENST00000526847.1:c.62-262C>T
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32583
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41834
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1878
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1945
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7827
  bin: 6.75e1
  variant carriers: 0
hgvs: c.2379C>T
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

19-1789992-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1789992
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1789992
    reference: chr 19
allele count: 3
allele frequency: 2.563182447326601e-5
allele num: 117042
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000439993
  ensembl transcript: ENST00000526847
  gene symbol: ATP8B3
  hgvsc: ENST00000526847.1:c.62-266G>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.*2375-4G>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.2409-4G>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.2379-4G>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.2268-4G>A
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32378
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16271
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5600
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41604
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2049
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1935
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
hgvs: c.2379-4G>A
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS

19-1789993-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1789993
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1789993
    reference: chr 19
allele count: 7
allele frequency: 5.994177085117314e-5
allele num: 116780
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.2379-5C>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.2409-5C>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.*2375-5C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000439993
  ensembl transcript: ENST00000526847
  gene symbol: ATP8B3
  hgvsc: ENST00000526847.1:c.62-267C>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.2268-5C>T
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16176
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7768
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2303
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41063
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
hgvs: c.2379-5C>T
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

19-1789993-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1789993
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1789993
    reference: chr 19
allele count: 1
allele frequency: 8.563110121596164e-6
allele num: 116780
alternate allele: C
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.2379-5C>G
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000439993
  ensembl transcript: ENST00000526847
  gene symbol: ATP8B3
  hgvsc: ENST00000526847.1:c.62-267C>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.2268-5C>G
  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.*2375-5C>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.2409-5C>G
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16176
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41063
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2037
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2303
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 8.25e1
  variant carriers: 0
hgvs: c.2379-5C>G
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP

19-1789998-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1789998
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1789998
    reference: chr 19
allele count: 1
allele frequency: 8.627085597943303e-6
allele num: 115914
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.2379-10C>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.2268-10C>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000439993
  ensembl transcript: ENST00000526847
  gene symbol: ATP8B3
  hgvsc: ENST00000526847.1:c.62-272C>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.2409-10C>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.*2375-10C>A
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2683
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5598
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30665
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1907
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3185
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39437
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7545
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/19-1790009-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790009
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790009
    reference: chr 19
allele count: 1
allele frequency: 8.77316114542392e-6
allele num: 113984
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000439993
  ensembl transcript: ENST00000526847
  gene symbol: ATP8B3
  hgvsc: ENST00000526847.1:c.62-283G>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.2409-21G>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.2379-21G>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.*2375-21G>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.2268-21G>T
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5030
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35230
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1915
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

19-1790009-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790009
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790009
    reference: chr 19
allele count: 2
allele frequency: 1.754632229084784e-5
allele num: 113984
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.2379-21G>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.*2375-21G>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.2409-21G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000439993
  ensembl transcript: ENST00000526847
  gene symbol: ATP8B3
  hgvsc: ENST00000526847.1:c.62-283G>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.2268-21G>A
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27307
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6957
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1871
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1915
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35230
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

19-1790010-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790010
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790010
    reference: chr 19
allele count: 2
allele frequency: 1.755802928679285e-5
allele num: 113908
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.2409-22C>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.*2375-22C>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.2379-22C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000439993
  ensembl transcript: ENST00000526847
  gene symbol: ATP8B3
  hgvsc: ENST00000526847.1:c.62-284C>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.2268-22C>T
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5425
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26907
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14817
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1924
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1579
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1473
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1866
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5269
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum

19-1790013-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790013
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790013
    reference: chr 19
allele count: 3
allele frequency: 2.656842254419214e-5
allele num: 112916
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.*2375-25C>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.2409-25C>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.2268-25C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000439993
  ensembl transcript: ENST00000526847
  gene symbol: ATP8B3
  hgvsc: ENST00000526847.1:c.62-287C>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.2379-25C>T
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24762
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3362
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6612
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5262
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1903
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5874
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1316
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32302
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1820
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-1790018-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790018
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790018
    reference: chr 19
allele count: 1
allele frequency: 8.986663790934254e-6
allele num: 111276
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.2379-30C>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.*2375-30C>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000439993
  ensembl transcript: ENST00000526847
  gene symbol: ATP8B3
  hgvsc: ENST00000526847.1:c.62-292C>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.2268-30C>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.2409-30C>A
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7679
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12819
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20690
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7434
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2651
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26433
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1735
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3815
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5651
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

19-1790020-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790020
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790019
    reference: chr 19
allele count: 1
allele frequency: 9.006250337734388e-6
allele num: 111034
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000439993
  ensembl transcript: ENST00000526847
  gene symbol: ATP8B3
  hgvsc: ENST00000526847.1:c.62-295delC
  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.2409-33delC
  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.2379-33delC
  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.2268-33delC
  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.*2375-33delC
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20553
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7724
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7414
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6383
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26617
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1719
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5606
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3802
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2750
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: AG
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

19-1790021-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790021
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790021
    reference: chr 19
allele count: 1
allele frequency: 9.00657479960371e-6
allele num: 111030
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.2379-33C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000439993
  ensembl transcript: ENST00000526847
  gene symbol: ATP8B3
  hgvsc: ENST00000526847.1:c.62-295C>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.*2375-33C>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.2409-33C>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.2268-33C>T
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7849
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7731
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2704
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6464
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2873
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5645
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3911
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP

19-1790021-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790021
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790021
    reference: chr 19
allele count: 1
allele frequency: 9.00657479960371e-6
allele num: 111030
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.2268-33C>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.2379-33C>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.2409-33C>G
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000439993
  ensembl transcript: ENST00000526847
  gene symbol: ATP8B3
  hgvsc: ENST00000526847.1:c.62-295C>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.*2375-33C>G
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7731
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7849
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2704
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2873
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1726
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1661
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26472
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-1790026-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790026
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790026
    reference: chr 19
allele count: 1
allele frequency: 9.144445663703867e-6
allele num: 109356
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.2379-38G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000439993
  ensembl transcript: ENST00000526847
  gene symbol: ATP8B3
  hgvsc: ENST00000526847.1:c.62-300G>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.2409-38G>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.2268-38G>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.*2375-38G>A
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10673
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7572
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18874
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2924
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11257
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5383
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1858
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1651
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4064
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6373
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

19-1790027-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790027
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790027
    reference: chr 19
allele count: 1
allele frequency: 9.148461228821313e-6
allele num: 109308
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.2379-39C>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.2268-39C>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.*2375-39C>G
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000439993
  ensembl transcript: ENST00000526847
  gene symbol: ATP8B3
  hgvsc: ENST00000526847.1:c.62-301C>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.2409-39C>G
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10627
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11373
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7633
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18805
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4392
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4026
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6440
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4571
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3045
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1905
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/19-1790713-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790713
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790713
    reference: chr 19
allele count: 1
allele frequency: 3.141887646097776e-5
allele num: 31828
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.2378+43G>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.2408+43G>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.2267+43G>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.*2374+43G>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000439993
  ensembl transcript: ENST00000526847
  gene symbol: ATP8B3
  hgvsc: ENST00000526847.1:c.61+43G>T
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26407
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7418
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2668
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2694
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2782
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6685
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12530
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14793
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7798
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/19-1790718-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790718
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790718
    reference: chr 19
allele count: 1
allele frequency: 3.027734043841589e-5
allele num: 33028
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000439993
  ensembl transcript: ENST00000526847
  gene symbol: ATP8B3
  hgvsc: ENST00000526847.1:c.61+38G>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.2378+38G>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.2408+38G>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.2267+38G>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.*2374+38G>T
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14763
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7714
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27315
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2695
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2154
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5371
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4470
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12328
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/19-1790722-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790722
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790722
    reference: chr 19
allele count: 5
allele frequency: 1.444085027726433e-4
allele num: 34624
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.2267+34G>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.2408+34G>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.*2374+34G>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000439993
  ensembl transcript: ENST00000526847
  gene symbol: ATP8B3
  hgvsc: ENST00000526847.1:c.61+34G>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.2378+34G>T
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8039
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12858
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28597
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2791
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1422
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3193
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11294
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4053
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2851
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

19-1790724-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790724
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790724
    reference: chr 19
allele count: 6
allele frequency: 1.686245854645607e-4
allele num: 35582
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.2378+32G>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.2408+32G>C
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000439993
  ensembl transcript: ENST00000526847
  gene symbol: ATP8B3
  hgvsc: ENST00000526847.1:c.61+32G>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.*2374+32G>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.2267+32G>C
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29380
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11748
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8180
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1422
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10530
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3040
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3425
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2882
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2869
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24940
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4530
  bin: 6.25e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

19-1790727-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790727
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790727
    reference: chr 19
allele count: 1
allele frequency: 2.743183189773413e-5
allele num: 36454
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.2378+29A>G
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000439993
  ensembl transcript: ENST00000526847
  gene symbol: ATP8B3
  hgvsc: ENST00000526847.1:c.61+29A>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.2408+29A>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.*2374+29A>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.2267+29A>G
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30557
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10064
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5206
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2898
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27777
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2803
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2631
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1312
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9264
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS

http://identifiers.org/exac.variant/19-1790737-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790737
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790737
    reference: chr 19
allele count: 47
allele frequency: 1.063733478182147e-3
allele num: 44184
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.2408+19G>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000439993
  ensembl transcript: ENST00000526847
  gene symbol: ATP8B3
  hgvsc: ENST00000526847.1:c.61+19G>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.*2374+19G>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.2378+19G>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.2267+19G>T
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31725
  bin: 7.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 5445
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6421
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8143
  bin: 1.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2545
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2703
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 9.75e1
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 2
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-1790737-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790737
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790737
    reference: chr 19
allele count: 2
allele frequency: 4.526525439072967e-5
allele num: 44184
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.2378+19G>C
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000439993
  ensembl transcript: ENST00000526847
  gene symbol: ATP8B3
  hgvsc: ENST00000526847.1:c.61+19G>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.*2374+19G>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.2408+19G>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.2267+19G>C
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6421
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5445
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31725
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2545
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8289
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31376
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2703
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP

19-1790737-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790737
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790737
    reference: chr 19
allele count: 520
allele frequency: 1.176896614158972e-2
allele num: 44184
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.2408+19G>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.*2374+19G>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.2378+19G>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.2267+19G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000439993
  ensembl transcript: ENST00000526847
  gene symbol: ATP8B3
  hgvsc: ENST00000526847.1:c.61+19G>A
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 2.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 1.75e1
  variant carriers: 141
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 3.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 8143
  bin: 1.25e1
  variant carriers: 186
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 31725
  bin: 7.5e0
  variant carriers: 120
genotype depth: GenotypeDepth
  all individuals: 6421
  bin: 2.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5445
  bin: 2.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 7.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 2703
  bin: 2.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2545
  bin: 3.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 1.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 6.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 4.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 8.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 31376
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 7.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 5.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 8.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 1.25e1
  variant carriers: 1
num of homozygotes: 7
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

19-1790741-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790741
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790741
    reference: chr 19
allele count: 3
allele frequency: 6.384880602732728e-5
allele num: 46986
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.2267+15G>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.*2374+15G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000439993
  ensembl transcript: ENST00000526847
  gene symbol: ATP8B3
  hgvsc: ENST00000526847.1:c.61+15G>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.2378+15G>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.2408+15G>A
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7626
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31662
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8141
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1451
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9856
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31631
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2402
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2511
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4085
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1293
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/19-1790751-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790751
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790751
    reference: chr 19
allele count: 2
allele frequency: 3.73399051566409e-5
allele num: 53562
alternate allele: A
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.2408+5G>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.*2374+5G>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: ENSP00000439993
  ensembl transcript: ENST00000526847
  gene symbol: ATP8B3
  hgvsc: ENST00000526847.1:c.61+5G>T
  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.2378+5G>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.2267+5G>T
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6788
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2608
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1957
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13764
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1598
  bin: 6.75e1
  variant carriers: 0
hgvs: c.2378+5G>T
num of homozygotes: 1
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

19-1790755-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790755
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790755
    reference: chr 19
allele count: 3
allele frequency: 5.343593031954686e-5
allele num: 56142
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.2378+1G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000444334
  ensembl transcript: ENST00000531925
  gene symbol: ATP8B3
  hgvsc: ENST00000531925.1:c.*2374+1G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.2408+1G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000439993
  ensembl transcript: ENST00000526847
  gene symbol: ATP8B3
  hgvsc: ENST00000526847.1:c.61+1G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.2267+1G>A
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29333
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6435
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30465
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1766
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1957
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2245
  bin: 7.5e0
  variant carriers: 0
hgvs: c.2378+1G>A
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/19-1790758-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790758
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790758
    reference: chr 19
allele count: 1
allele frequency: 1.720104582358608e-5
allele num: 58136
alternate allele: C
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.*2372T>G
  variant of: http://identifiers.org/hgnc/13535
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.2376T>G
  hgvsp: ENSP00000311336.6:p.Ile792Met
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000439993
  ensembl transcript: ENST00000526847
  gene symbol: ATP8B3
  hgvsc: ENST00000526847.1:c.59T>G
  hgvsp: ENSP00000439993.1:p.Ile20Met
  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.2265T>G
  hgvsp: ENSP00000437115.1:p.Ile755Met
  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.2406T>G
  hgvsp: ENSP00000443574.1:p.Ile802Met
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28636
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29986
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16716
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1997
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile792Met
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

19-1790760-TCTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790760
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790757
    reference: chr 19
allele count: 3
allele frequency: 5.058851303497352e-5
allele num: 59302
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.2371_2373delGAG
  hgvsp: ENSP00000311336.6:p.Glu791del
  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.*2367_*2369delGAG
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.2401_2403delGAG
  hgvsp: ENSP00000443574.1:p.Glu801del
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.2260_2262delGAG
  hgvsp: ENSP00000437115.1:p.Glu754del
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000439993
  ensembl transcript: ENST00000526847
  gene symbol: ATP8B3
  hgvsc: ENST00000526847.1:c.54_56delGAG
  hgvsp: ENSP00000439993.1:p.Glu19del
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15142
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6027
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28231
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29540
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17012
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1860
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1577
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu791del
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: TCTC
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff

19-1790763-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790763
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790763
    reference: chr 19
allele count: 166
allele frequency: 2.715435451154878e-3
allele num: 61132
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.*2367G>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.2371G>A
  hgvsp: ENSP00000311336.6:p.Glu791Lys
  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.2401G>A
  hgvsp: ENSP00000443574.1:p.Glu801Lys
  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.2260G>A
  hgvsp: ENSP00000437115.1:p.Glu754Lys
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000439993
  ensembl transcript: ENST00000526847
  gene symbol: ATP8B3
  hgvsc: ENST00000526847.1:c.54G>A
  hgvsp: ENSP00000439993.1:p.Glu19Lys
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5869
  bin: 1.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 1.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4048
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27397
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16163
  bin: 2.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28835
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18303
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 9.75e1
  variant carriers: 149
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 4.25e1
  variant carriers: 1
hgvs: p.Glu791Lys
num of homozygotes: 2
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-1790766-TCTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790766
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790763
    reference: chr 19
allele count: 1
allele frequency: 1.588713777325877e-5
allele num: 62944
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.2365_2367delGAG
  hgvsp: ENSP00000311336.6:p.Glu789del
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.2395_2397delGAG
  hgvsp: ENSP00000443574.1:p.Glu799del
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.2254_2256delGAG
  hgvsp: ENSP00000437115.1:p.Glu752del
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000439993
  ensembl transcript: ENST00000526847
  gene symbol: ATP8B3
  hgvsc: ENST00000526847.1:c.48_50delGAG
  hgvsp: ENSP00000439993.1:p.Glu17del
  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.*2361_*2363delGAG
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26707
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4126
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5650
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1576
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1797
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu789del
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: TCTC
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

19-1790767-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790767
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790767
    reference: chr 19
allele count: 43
allele frequency: 6.769734563430839e-4
allele num: 63518
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.2256G>A
  hgvsp: ENST00000525591.1:c.2256G>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.2367G>A
  hgvsp: ENST00000310127.6:c.2367G>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.2397G>A
  hgvsp: ENST00000539485.1:c.2397G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000439993
  ensembl transcript: ENST00000526847
  gene symbol: ATP8B3
  hgvsc: ENST00000526847.1:c.50G>A
  hgvsp: ENST00000526847.1:c.50G>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.*2363G>A
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17585
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5593
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 26405
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4174
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28122
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1797
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 9.75e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19748
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu789Glu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP

19-1790802-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790802
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790802
    reference: chr 19
allele count: 1
allele frequency: 1.515656734062869e-5
allele num: 65978
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000439993
  ensembl transcript: ENST00000526847
  gene symbol: ATP8B3
  hgvsc: ENST00000526847.1:c.15G>A
  hgvsp: ENSP00000439993.1:p.Glu6Lys
  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.2332G>A
  hgvsp: ENSP00000311336.6:p.Glu778Lys
  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.*2328G>A
  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.2362G>A
  hgvsp: ENSP00000443574.1:p.Glu788Lys
  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.2221G>A
  hgvsp: ENSP00000437115.1:p.Glu741Lys
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13745
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24500
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4808
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1753
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1653
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2424
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu778Lys
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

19-1790803-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790803
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790803
    reference: chr 19
allele count: 2
allele frequency: 3.071913494915983e-5
allele num: 65106
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000439993
  ensembl transcript: ENST00000526847
  gene symbol: ATP8B3
  hgvsc: ENST00000526847.1:c.14C>A
  hgvsp: ENSP00000439993.1:p.Cys5Ter
  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.2331C>A
  hgvsp: ENSP00000311336.6:p.Cys777Ter
  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.2220C>A
  hgvsp: ENSP00000437115.1:p.Cys740Ter
  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.*2327C>A
  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.2361C>A
  hgvsp: ENSP00000443574.1:p.Cys787Ter
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4780
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12968
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24693
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9846
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2585
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29502
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Cys777Ter
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

19-1790804-CAGGCGA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790804
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790798
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 64424
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.2324_2329delTCGCCT
  hgvsp: ENSP00000311336.6:p.Phe775_Ala776del
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.2354_2359delTCGCCT
  hgvsp: ENSP00000443574.1:p.Phe785_Ala786del
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000439993
  ensembl transcript: ENST00000526847
  gene symbol: ATP8B3
  hgvsc: ENST00000526847.1:c.7_12delTCGCCT
  hgvsp: ENSP00000439993.1:p.Phe3_Ala4del
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.2213_2218delTCGCCT
  hgvsp: ENSP00000437115.1:p.Phe738_Ala739del
  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
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: inframe deletion
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24809
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12382
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29492
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2649
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Phe775_Ala776del
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: CAGGCGA
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

19-1790806-GGCGAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790806
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790801
    reference: chr 19
allele count: 18
allele frequency: 2.794076557697681e-4
allele num: 64422
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000439993
  ensembl transcript: ENST00000526847
  gene symbol: ATP8B3
  hgvsc: ENST00000526847.1:c.6_10delTTCGC
  hgvsp: ENSP00000439993.1:p.Phe3LeufsTer17
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.2353_2357delTTCGC
  hgvsp: ENSP00000443574.1:p.Phe785LeufsTer17
  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.*2319_*2323delTTCGC
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.2212_2216delTTCGC
  hgvsp: ENSP00000437115.1:p.Phe738LeufsTer17
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.2323_2327delTTCGC
  hgvsp: ENSP00000311336.6:p.Phe775LeufsTer17
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12137
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10428
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 24910
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2717
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1855
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Phe775LeufsTer17
num of homozygotes: 1
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: GGCGAA
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

19-1790809-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790809
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790809
    reference: chr 19
allele count: 4
allele frequency: 6.346989940020944e-5
allele num: 63022
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.*2321C>T
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000439993
  ensembl transcript: ENST00000526847
  gene symbol: ATP8B3
  hgvsc: ENST00000526847.1:c.8C>T
  hgvsp: ENST00000526847.1:c.8C>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.2355C>T
  hgvsp: ENST00000539485.1:c.2355C>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.2214C>T
  hgvsp: ENST00000525591.1:c.2214C>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.2325C>T
  hgvsp: ENST00000310127.6:c.2325C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24976
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11312
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11057
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4622
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1906
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1679
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 30143
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2929
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Phe775Phe
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP

19-1790809-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790809
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790809
    reference: chr 19
allele count: 12
allele frequency: 1.904096982006284e-4
allele num: 63022
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000439993
  ensembl transcript: ENST00000526847
  gene symbol: ATP8B3
  hgvsc: ENST00000526847.1:c.8C>A
  hgvsp: ENSP00000439993.1:p.Phe3Leu
  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.*2321C>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.2214C>A
  hgvsp: ENSP00000437115.1:p.Phe738Leu
  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.2325C>A
  hgvsp: ENSP00000311336.6:p.Phe775Leu
  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.2355C>A
  hgvsp: ENSP00000443574.1:p.Phe785Leu
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 24976
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11057
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11312
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13546
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2929
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1906
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1679
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Phe775Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

19-1790812-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790812
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790812
    reference: chr 19
allele count: 1
allele frequency: 1.573910853689247e-5
allele num: 63536
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000439993
  ensembl transcript: ENST00000526847
  gene symbol: ATP8B3
  hgvsc: ENST00000526847.1:c.5C>T
  hgvsp: ENST00000526847.1:c.5C>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.2322C>T
  hgvsp: ENST00000310127.6:c.2322C>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.*2318C>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.2211C>T
  hgvsp: ENST00000525591.1:c.2211C>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.2352C>T
  hgvsp: ENST00000539485.1:c.2352C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11492
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4564
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3005
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1726
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31578
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly774Gly
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-1790814-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790814
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790814
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 63088
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000439993
  ensembl transcript: ENST00000526847
  gene symbol: ATP8B3
  hgvsc: ENST00000526847.1:c.3G>T
  hgvsp: ENSP00000439993.1:p.Gly2Cys
  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.*2316G>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.2320G>T
  hgvsp: ENSP00000311336.6:p.Gly774Cys
  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.2350G>T
  hgvsp: ENSP00000443574.1:p.Gly784Cys
  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.2209G>T
  hgvsp: ENSP00000437115.1:p.Gly737Cys
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: missense
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11751
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25246
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10357
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4557
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1717
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32027
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3094
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1570
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2008
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly774Cys
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

19-1790814-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790814
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790814
    reference: chr 19
allele count: 6
allele frequency: 9.51052498097895e-5
allele num: 63088
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.*2316G>A
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000439993
  ensembl transcript: ENST00000526847
  gene symbol: ATP8B3
  hgvsc: ENST00000526847.1:c.3G>A
  hgvsp: ENSP00000439993.1:p.Gly2Ser
  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.2350G>A
  hgvsp: ENSP00000443574.1:p.Gly784Ser
  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.2320G>A
  hgvsp: ENSP00000311336.6:p.Gly774Ser
  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.2209G>A
  hgvsp: ENSP00000437115.1:p.Gly737Ser
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10357
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4557
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11751
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1717
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2008
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1570
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13198
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 1.75e1
  variant carriers: 1
hgvs: p.Gly774Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

19-1790815-G-GTCAGAGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790815
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790822
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 62300
alternate allele: GTCAGAGA
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
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.2207_2208insTCTCTGA
  hgvsp: ENSP00000437115.1:p.Gly737LeufsTer2
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000439993
  ensembl transcript: ENST00000526847
  gene symbol: ATP8B3
  hgvsc: ENST00000526847.1:c.1_2insTCTCTGA
  hgvsp: ENSP00000439993.1:p.Gly2LeufsTer2
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.2348_2349insTCTCTGA
  hgvsp: ENSP00000443574.1:p.Gly784LeufsTer2
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.2318_2319insTCTCTGA
  hgvsp: ENSP00000311336.6:p.Gly774LeufsTer2
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: stop gained
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12039
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4440
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25329
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9912
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32009
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2039
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3281
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12415
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly774LeufsTer2
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

19-1790823-CAGCCG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790823
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790818
    reference: chr 19
allele count: 1
allele frequency: 1.639451767329005e-5
allele num: 60996
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.2306_2310delCGGCT
  hgvsp: ENSP00000311336.6:p.Thr769SerfsTer23
  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.*2302_*2306delCGGCT
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.2336_2340delCGGCT
  hgvsp: ENSP00000443574.1:p.Thr779SerfsTer23
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.2195_2199delCGGCT
  hgvsp: ENSP00000437115.1:p.Thr732SerfsTer23
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 25561
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4299
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8408
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3512
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33608
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1502
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1728
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3707
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr769SerfsTer23
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: CAGCCG
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff

19-1790826-C-CCGTTTCTG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790826
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790834
    reference: chr 19
allele count: 1
allele frequency: 1.674424835069154e-5
allele num: 59722
alternate allele: CCGTTTCTG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsp: ENSP00000443574.1:p.Ala780GlnfsTer5
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsp: ENSP00000311336.6:p.Ala770GlnfsTer5
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsp: ENSP00000437115.1:p.Ala733GlnfsTer5
  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
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25599
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13653
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33675
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10407
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2137
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1739
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4230
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala770GlnfsTer5
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-1790827-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790827
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790827
    reference: chr 19
allele count: 1
allele frequency: 1.684125433662299e-5
allele num: 59378
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.2307G>T
  hgvsp: ENST00000310127.6:c.2307G>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.2337G>T
  hgvsp: ENST00000539485.1:c.2337G>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.*2303G>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.2196G>T
  hgvsp: ENST00000525591.1:c.2196G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13754
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25607
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33875
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2133
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4431
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr769Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum

19-1790830-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790830
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790830
    reference: chr 19
allele count: 1
allele frequency: 1.705495105229048e-5
allele num: 58634
alternate allele: C
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.*2300A>G
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.2334A>G
  hgvsp: ENST00000539485.1:c.2334A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000311336
  ensembl transcript: ENST00000310127
  gene symbol: ATP8B3
  hgvsc: ENST00000310127.6:c.2304A>G
  hgvsp: ENST00000310127.6:c.2304A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.2193A>G
  hgvsp: ENST00000525591.1:c.2193A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4650
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3990
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14099
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25625
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9698
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1447
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4914
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2199
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34042
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 7.75e1
  variant carriers: 0
hgvs: c.2304A>G
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

19-1790836-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790836
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790836
    reference: chr 19
allele count: 2
allele frequency: 3.556061306496924e-5
allele num: 56242
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.2303-5C>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.*2299-5C>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.2192-5C>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.2333-5C>T
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14700
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3699
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5901
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5651
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6249
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1742
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2283
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8425
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33796
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 3.75e1
  variant carriers: 0
hgvs: c.2303-5C>T
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/19-1790837-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790837
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790837
    reference: chr 19
allele count: 1
allele frequency: 1.782785423946374e-5
allele num: 56092
alternate allele: C
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.2303-6T>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.2192-6T>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.2333-6T>G
  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.*2299-6T>G
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3661
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14747
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6207
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25312
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1776
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33798
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6557
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8217
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 7.25e1
  variant carriers: 0
hgvs: c.2303-6T>G
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

19-1790841-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790841
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790841
    reference: chr 19
allele count: 7
allele frequency: 1.324152542372881e-4
allele num: 52864
alternate allele: G
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.*2299-10T>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.2303-10T>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.2333-10T>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.2192-10T>C
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8232
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14681
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24596
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2344
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2311
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6724
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8731
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1644
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1890
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 7.25e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

19-1790843-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790843
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790843
    reference: chr 19
allele count: 227
allele frequency: 4.296801060003786e-3
allele num: 52830
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.2192-12T>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.*2299-12T>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.2303-12T>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.2333-12T>C
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24589
  bin: 7.5e0
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3357
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8263
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4249
  bin: 2.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 14740
  bin: 1.25e1
  variant carriers: 112
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 1.75e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 8777
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 7.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1848
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 9.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 8.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 31559
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 3.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2260
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 1.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1801
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6857
  bin: 6.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 9.75e1
  variant carriers: 204
num of homozygotes: 3
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/19-1790845-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790845
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790845
    reference: chr 19
allele count: 2
allele frequency: 3.941508020968822e-5
allele num: 50742
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.*2299-14G>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.2303-14G>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.2333-14G>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.2192-14G>T
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14388
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9529
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3199
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10123
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2239
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6191
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29962
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2333
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1878
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP

19-1790845-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790845
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790845
    reference: chr 19
allele count: 1
allele frequency: 1.970754010484411e-5
allele num: 50742
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.2333-14G>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.*2299-14G>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.2303-14G>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.2192-14G>C
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3199
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14388
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9529
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1878
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10123
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2333
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29962
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6191
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2239
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP

19-1790852-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790852
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790852
    reference: chr 19
allele count: 211
allele frequency: 4.6911823558184e-3
allele num: 44978
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.*2299-21C>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.2333-21C>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.2192-21C>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.2303-21C>T
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12785
  bin: 1.25e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 12598
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 3.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 3.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 23830
  bin: 7.5e0
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 2.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 1.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 2.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 8.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 4796
  bin: 6.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2009
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3253
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13310
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2281
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 25293
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3105
  bin: 1.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 5.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 6.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 9.75e1
  variant carriers: 216
num of homozygotes: 3
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

19-1790854-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790854
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790854
    reference: chr 19
allele count: 2
allele frequency: 4.521408871004205e-5
allele num: 44234
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.*2299-23C>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.2192-23C>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.2303-23C>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.2333-23C>T
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12581
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23853
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12991
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25593
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3370
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1964
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13817
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2263
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: African
reference allele: G
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-1790854-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790854
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790854
    reference: chr 19
allele count: 1
allele frequency: 2.260704435502102e-5
allele num: 44234
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.2192-23C>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.*2299-23C>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.2333-23C>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.2303-23C>A
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12581
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23853
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12991
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4825
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1964
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2566
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2263
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13817
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3370
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25593
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

19-1790855-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790855
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790855
    reference: chr 19
allele count: 73
allele frequency: 1.766698935140368e-3
allele num: 41320
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.2192-24G>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.2303-24G>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.*2299-24G>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.2333-24G>C
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 1.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14148
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23849
  bin: 7.5e0
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11649
  bin: 1.25e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2054
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 22437
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3865
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2183
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14999
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 9.75e1
  variant carriers: 86
genotype quality: GenotypeQuality
  all individuals: 4104
  bin: 6.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 7.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD

19-1790855-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790855
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790855
    reference: chr 19
allele count: 8
allele frequency: 1.936108422071636e-4
allele num: 41320
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.2333-24G>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.2192-24G>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.*2299-24G>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.2303-24G>A
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23849
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11649
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22437
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14999
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3865
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4082
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2183
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2054
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

19-1790856-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790856
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790856
    reference: chr 19
allele count: 1
allele frequency: 2.425889088350881e-5
allele num: 41222
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.2333-25G>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.2192-25G>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.2303-25G>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.*2299-25G>A
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14249
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11567
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23881
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4081
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4175
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15122
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2020
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3506
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2166
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD

19-1790861-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790861
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790861
    reference: chr 19
allele count: 2
allele frequency: 5.477951246233908e-5
allele num: 36510
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.2333-30G>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.2303-30G>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.2192-30G>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.*2299-30G>A
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9737
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24497
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15620
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16453
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18568
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2085
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5266
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5044
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2057
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-1790863-A-ACCCGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790863
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790868
    reference: chr 19
allele count: 3
allele frequency: 8.332870396089106e-5
allele num: 36002
alternate allele: ACCCGC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000437115
  ensembl transcript: ENST00000525591
  gene symbol: ATP8B3
  hgvsc: ENST00000525591.1:c.2192-37_2192-33dupGCGGG
  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.*2299-37_*2299-33dupGCGGG
  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.2303-37_2303-33dupGCGGG
  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.2333-37_2333-33dupGCGGG
  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: 423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24575
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15781
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9626
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5306
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2015
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3114
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18492
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16546
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

19-1790865-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790865
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790865
    reference: chr 19
allele count: 2
allele frequency: 5.630313608467991e-5
allele num: 35522
alternate allele: G
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.*2299-34G>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.2192-34G>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.2333-34G>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.2303-34G>C
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24737
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9105
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18801
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3075
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17146
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2070
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4200
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5520
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS

19-1790866-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790866
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790866
    reference: chr 19
allele count: 1
allele frequency: 2.815949538184276e-5
allele num: 35512
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.2192-35G>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.2303-35G>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.*2299-35G>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.2333-35G>A
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24742
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9097
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3192
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2059
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5465
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3750
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17191
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2038
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum

19-1790867-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790867
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790867
    reference: chr 19
allele count: 1
allele frequency: 2.959280303030303e-5
allele num: 33792
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.2192-36C>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.2303-36C>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.*2299-36C>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.2333-36C>T
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8660
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24994
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16308
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1960
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17269
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5899
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4599
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2020
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17333
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2755
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1982
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-1790867-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790867
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790867
    reference: chr 19
allele count: 1
allele frequency: 2.959280303030303e-5
allele num: 33792
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.2333-36C>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.2192-36C>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.*2299-36C>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.2303-36C>A
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24994
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8660
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16308
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2020
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1960
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5899
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17269
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1982
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17333
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4599
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2755
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/19-1790868-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790868
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790868
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 34262
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.2333-37G>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.2303-37G>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.*2299-37G>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.2192-37G>T
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8549
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16471
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25033
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4251
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2054
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2026
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5891
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2883
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17526
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17991
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

19-1790871-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790871
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790871
    reference: chr 19
allele count: 1
allele frequency: 3.04228780042592e-5
allele num: 32870
alternate allele: G
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.*2299-40G>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.2192-40G>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.2303-40G>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.2333-40G>C
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16532
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25479
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7997
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16013
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1818
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2525
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6539
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1258
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 17636
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 123
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 9.25e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-1790871-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790871
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790871
    reference: chr 19
allele count: 33
allele frequency: 1.003954974140554e-3
allele num: 32870
alternate allele: T
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.*2299-40G>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.2192-40G>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.2303-40G>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.2333-40G>A
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7997
  bin: 1.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 16532
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25479
  bin: 7.5e0
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1818
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6539
  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1258
  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 251
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 931
  bin: 9.75e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 9.25e1
  variant carriers: 2
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

19-1790877-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1790877
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1790877
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 30246
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.2303-46C>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.2192-46C>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.2333-46C>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.*2299-46C>T
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26281
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6963
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16996
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11191
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2716
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2054
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD

19-1791704-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1791704
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1791704
    reference: chr 19
allele count: 2
allele frequency: 2.034505208333333e-5
allele num: 98304
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.2191+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.2302+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.2332+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.*2298+45G>A
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9827
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18082
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4508
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12511
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9110
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7139
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2331
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1735
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3357
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4612
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9129
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9818
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7787
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

19-1791711-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1791711
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1791711
    reference: chr 19
allele count: 1
allele frequency: 1.005833836250251e-5
allele num: 99420
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130270
  ensembl protein: ENSP00000443574
  ensembl transcript: ENST00000539485
  gene symbol: ATP8B3
  hgvsc: ENST00000539485.1:c.2332+38A>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.*2298+38A>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.2191+38A>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.2302+38A>G
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9025
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9092
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13777
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7509
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3093
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6528
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2712
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10020
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4517
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

19-1791718-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1791718
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1791718
    reference: chr 19
allele count: 37
allele frequency: 3.683057933505873e-4
allele num: 100460
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.2302+31C>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.2332+31C>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.2191+31C>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.*2298+31C>A
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8740
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6034
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6260
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 14632
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 18679
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5020
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10031
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2769
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1767
  bin: 9.75e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1822
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6501
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19516
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1857
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

19-1791719-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1791719
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1791719
    reference: chr 19
allele count: 1
allele frequency: 9.916503044366434e-6
allele num: 100842
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.2302+30G>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.*2298+30G>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.2332+30G>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.2191+30G>A
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5929
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8640
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19388
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3973
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9912
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20111
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1759
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6338
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1735
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4831
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2814
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/19-1791729-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1791729
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1791729
    reference: chr 19
allele count: 1
allele frequency: 9.529618052908439e-6
allele num: 104936
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.2191+20G>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.*2298+20G>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.2332+20G>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.2302+20G>T
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6764
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8655
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27742
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7946
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2473
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2695
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29897
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1763
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3819
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3300
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

19-1791729-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1791729
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1791729
    reference: chr 19
allele count: 2
allele frequency: 1.905923610581688e-5
allele num: 104936
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.2332+20G>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.*2298+20G>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.2302+20G>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.2191+20G>C
  variant of: http://identifiers.org/hgnc/13535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27742
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8655
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6764
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3819
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1763
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2473
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2695
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7946
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29897
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3300
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP

GenotypeQuality
all individuals: 427
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2088
bin: 7.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.53997782431933e-5
allele num: 64936
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9456
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.317e1

MQ
type: SiteQuality
SIO_000300: 5.931e1

MQRankSum
type: SiteQuality
SIO_000300: -9.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.479563e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.471e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.88e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e0

FS
type: SiteQuality
SIO_000300: 7.09e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.025e-1

GenotypeQuality
all individuals: 537
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2061
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 425
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1061
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.220703125e-4
allele num: 16384
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9274
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8444
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64306
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.1e0

DP
type: SiteQuality
SIO_000300: 1.458543e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.431e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.339e0

MQRankSum
type: SiteQuality
SIO_000300: 2.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.59e-1

FS
type: SiteQuality
SIO_000300: 2.03e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

GenotypeQuality
all individuals: 7807
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1059
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2072
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1016
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 119
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.55534486845224e-4
allele num: 8438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64194
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11378
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16364
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.4552e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.42e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

VQSLOD
type: SiteQuality
SIO_000300: 3.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.223e0

QD
type: SiteQuality
SIO_000300: 8.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.55e-1

FS
type: SiteQuality
SIO_000300: 2.601e0

GenotypeQuality
all individuals: 2037
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1930
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.561914282144196e-5
allele num: 64024
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 6.533101045296168e-4
allele num: 9184
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8428
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e-1

FS
type: SiteQuality
SIO_000300: 2.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

DP
type: SiteQuality
SIO_000300: 1.45012e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.425e0

MQRankSum
type: SiteQuality
SIO_000300: 2.75e-1

QD
type: SiteQuality
SIO_000300: 1.398e1

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

MQ
type: SiteQuality
SIO_000300: 5.907e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.25e-1

GenotypeQuality
all individuals: 41
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7768
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1021
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1930
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8428
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9184
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.561914282144196e-5
allele num: 64024
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.25e-1

MQ
type: SiteQuality
SIO_000300: 5.907e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.425e0

MQRankSum
type: SiteQuality
SIO_000300: 2.75e-1

FS
type: SiteQuality
SIO_000300: 2.39e0

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

QD
type: SiteQuality
SIO_000300: 1.398e1

DP
type: SiteQuality
SIO_000300: 1.45012e6

GenotypeQuality
all individuals: 61
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1051
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1989
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.574456025443209e-5
allele num: 63514
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11300
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9018
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16316
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.85e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.506e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.523e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.01e-1

QD
type: SiteQuality
SIO_000300: 8.07e0

DP
type: SiteQuality
SIO_000300: 1.430672e6

MQ
type: SiteQuality
SIO_000300: 5.809e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.46e-1

GenotypeQuality
all individuals: 6957
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1365
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1871
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.604466835670507e-5
allele num: 62326
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16198
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11212
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8296
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8754
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6352
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.19e0

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

QD
type: SiteQuality
SIO_000300: 1.184e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-2

MQ
type: SiteQuality
SIO_000300: 5.941e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e-1

FS
type: SiteQuality
SIO_000300: 5.459e0

DP
type: SiteQuality
SIO_000300: 1.384086e6

VQSLOD
type: SiteQuality
SIO_000300: 7.63e-1

GenotypeQuality
all individuals: 418
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1012
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1365
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5030
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16198
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11212
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8754
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6352
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8296
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.208933671341014e-5
allele num: 62326
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.19e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

DP
type: SiteQuality
SIO_000300: 1.384086e6

FS
type: SiteQuality
SIO_000300: 5.459e0

VQSLOD
type: SiteQuality
SIO_000300: 7.63e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e-1

QD
type: SiteQuality
SIO_000300: 1.184e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-2

GenotypeQuality
all individuals: 113
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1013
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 176
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35083
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6991
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6336
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62262
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8750
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.41254523522316e-4
allele num: 8290
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16214
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.976e1

FS
type: SiteQuality
SIO_000300: 1.19e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.285e0

VQSLOD
type: SiteQuality
SIO_000300: 2.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.376607e6

QD
type: SiteQuality
SIO_000300: 1.263e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.85e-1

GenotypeQuality
all individuals: 6513
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1012
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2305
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.866969500324464e-5
allele num: 61640
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8214
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11146
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6288
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16164
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.345351e6

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.649e0

QD
type: SiteQuality
SIO_000300: 1.339e1

VQSLOD
type: SiteQuality
SIO_000300: 3.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.083e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e0

GenotypeQuality
all individuals: 2720
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1590
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6358
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1018
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1721
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 852
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.229709788489916e-4
allele num: 8132
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11058
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6210
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16120
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60554
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.922e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 2.174e0

DP
type: SiteQuality
SIO_000300: 1.292174e6

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.62e-1

QD
type: SiteQuality
SIO_000300: 1.259e1

GenotypeQuality
all individuals: 1005
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 546
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2640
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1705
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1011
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8352
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6170
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.654423929587718e-5
allele num: 60444
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11044
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16100
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQ
type: SiteQuality
SIO_000300: 6.213e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.318e0

QD
type: SiteQuality
SIO_000300: 1.599e1

DP
type: SiteQuality
SIO_000300: 1.291611e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.634e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.58e0

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

GenotypeQuality
all individuals: 1661
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1012
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1726
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1006
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 26472
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11050
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16112
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6170
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.655190677966102e-5
allele num: 60416
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8356
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8116
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.74e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.79e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.15e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

QD
type: SiteQuality
SIO_000300: 1.355e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e-1

DP
type: SiteQuality
SIO_000300: 1.285648e6

GenotypeQuality
all individuals: 5645
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3911
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6464
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 931
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1712
bin: 7.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6170
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8116
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11050
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.655190677966102e-5
allele num: 60416
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16112
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8356
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.285648e6

VQSLOD
type: SiteQuality
SIO_000300: 2.74e0

MQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

QD
type: SiteQuality
SIO_000300: 1.355e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.15e-1

GenotypeQuality
all individuals: 4589
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3054
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1936
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1671
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21413
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15968
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.68214237653075e-5
allele num: 59448
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6012
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10914
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8070
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.697e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.93e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.54e-1

DP
type: SiteQuality
SIO_000300: 1.255054e6

MQRankSum
type: SiteQuality
SIO_000300: -6.08e-1

MQ
type: SiteQuality
SIO_000300: 5.906e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

VQSLOD
type: SiteQuality
SIO_000300: -5.750999999999999e-1

GenotypeQuality
all individuals: 1695
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 633
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 995
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 405
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5457
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21858
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.684863189109044e-5
allele num: 59352
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8068
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6034
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15984
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10908
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.5e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

MQRankSum
type: SiteQuality
SIO_000300: -3.0e-1

QD
type: SiteQuality
SIO_000300: 1.285e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.253364e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.182e0

GenotypeQuality
all individuals: 2985
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1443
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 998
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 156
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16398
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3126
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 304
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 7.235890014471779e-4
allele num: 1382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1620
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6872
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2126
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.26e-2

QD
type: SiteQuality
SIO_000300: 7.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

DP
type: SiteQuality
SIO_000300: 5.88054e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 19916
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2762
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 995
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3713
bin: 6.25e1
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GenotypeQuality
all individuals: 493
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7106
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2178
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1482
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1666
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 320
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.854115443156539e-5
allele num: 17082
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

QD
type: SiteQuality
SIO_000300: 1.227e1

VQSLOD
type: SiteQuality
SIO_000300: 3.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 6.09539e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.02e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e-1

GenotypeQuality
all individuals: 416
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
all individuals: 161
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GenotypeQuality
all individuals: 4274
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 2.781486426346239e-4
allele num: 17976
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7332
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3308
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1636
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1830
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2224
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.32068e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.589e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.58e-2

QD
type: SiteQuality
SIO_000300: 1.393e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.95e-1

GenotypeQuality
all individuals: 161
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1912
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2242
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1782
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3376
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 328
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 3.246753246753247e-4
allele num: 18480
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7462
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.43738e5

QD
type: SiteQuality
SIO_000300: 1.557e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.93e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 9.994999999999999e0

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.47e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.666e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.6e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1164
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GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2046
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1910
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.275374551593163e-5
allele num: 18956
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7488
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2260
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3464
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e0

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

QD
type: SiteQuality
SIO_000300: 1.676e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.27e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.57e0

VQSLOD
type: SiteQuality
SIO_000300: -3.066e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.681e0

MQ
type: SiteQuality
SIO_000300: 5.763e1

DP
type: SiteQuality
SIO_000300: 6.62569e5

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 179
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GenotypeQuality
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variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2540
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 8.108108108108109e-3
allele num: 370
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2680
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2820
num of homozygotes: 0

South Asian
type: Population
allele count: 43
allele frequency: 5.119047619047619e-3
allele num: 8400
num of homozygotes: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3988
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.276062601556487e-5
allele num: 23386
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.05e0

DP
type: SiteQuality
SIO_000300: 7.43775e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-2

QD
type: SiteQuality
SIO_000300: 1.486e1

FS
type: SiteQuality
SIO_000300: 1.234e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.87e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

GenotypeQuality
all individuals: 5241
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 179
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GenotypeQuality
all individuals: 277
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GenotypeQuality
all individuals: 1504
bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 1
allele frequency: 3.73134328358209e-4
allele num: 2680
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23386
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.507522567703109e-4
allele num: 3988
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8400
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 370
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2820
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2540
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.72e-1

QD
type: SiteQuality
SIO_000300: 1.486e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.11e-1

FS
type: SiteQuality
SIO_000300: 1.234e0

VQSLOD
type: SiteQuality
SIO_000300: 4.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.87e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-2

DP
type: SiteQuality
SIO_000300: 7.43775e5

GenotypeQuality
all individuals: 543
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variant carriers: 1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 9.25e1
variant carriers: 20

GenotypeQuality
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bin: 6.25e1
variant carriers: 15

GenotypeQuality
all individuals: 94
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GenotypeQuality
all individuals: 1504
bin: 9.75e1
variant carriers: 502

European (Finnish)
type: Population
allele count: 60
allele frequency: 2.362204724409449e-2
allele num: 2540
num of homozygotes: 1

Other
type: Population
allele count: 1
allele frequency: 2.702702702702703e-3
allele num: 370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 336
allele frequency: 1.43675703412298e-2
allele num: 23386
num of homozygotes: 2

Latino
type: Population
allele count: 20
allele frequency: 7.092198581560284e-3
allele num: 2820
num of homozygotes: 1

African
type: Population
allele count: 3
allele frequency: 7.522567703109327e-4
allele num: 3988
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2680
num of homozygotes: 0

South Asian
type: Population
allele count: 100
allele frequency: 1.19047619047619e-2
allele num: 8400
num of homozygotes: 3

MQRankSum
type: SiteQuality
SIO_000300: 2.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.87e-2

QD
type: SiteQuality
SIO_000300: 1.486e1

FS
type: SiteQuality
SIO_000300: 1.234e0

DP
type: SiteQuality
SIO_000300: 7.43775e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.11e-1

GenotypeQuality
all individuals: 838
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variant carriers: 0

GenotypeQuality
all individuals: 147
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GenotypeQuality
all individuals: 466
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GenotypeQuality
all individuals: 447
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GenotypeQuality
all individuals: 161
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GenotypeQuality
all individuals: 971
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variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2946
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25038
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3174
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 384
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.494874184529357e-4
allele num: 8584
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4188
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2672
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.13e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-1

DP
type: SiteQuality
SIO_000300: 7.7175e5

FS
type: SiteQuality
SIO_000300: 1.575e0

MQ
type: SiteQuality
SIO_000300: 5.82e1

VQSLOD
type: SiteQuality
SIO_000300: -1.723e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-1

QD
type: SiteQuality
SIO_000300: 5.53e0

GenotypeQuality
all individuals: 161
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variant carriers: 0

GenotypeQuality
all individuals: 2124
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GenotypeQuality
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GenotypeQuality
all individuals: 849
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GenotypeQuality
all individuals: 969
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GenotypeQuality
all individuals: 413
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GenotypeQuality
all individuals: 487
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3930
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28962
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 436
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2882
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9190
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 5.617977528089888e-4
allele num: 3560
num of homozygotes: 1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.6e-3

FS
type: SiteQuality
SIO_000300: 4.666e0

MQRankSum
type: SiteQuality
SIO_000300: -1.68e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.398e0

MQ
type: SiteQuality
SIO_000300: 5.878e1

DP
type: SiteQuality
SIO_000300: 8.32794e5

ClippingRankSum
type: SiteQuality
SIO_000300: -7.83e-1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.5e-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
all individuals: 15258
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4748
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30504
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.198294243070363e-4
allele num: 9380
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4276
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3784
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 460
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2990
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

FS
type: SiteQuality
SIO_000300: 8.743e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.345e-1

DP
type: SiteQuality
SIO_000300: 8.56841e5

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 9.369999999999999e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 573
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GenotypeQuality
all individuals: 488
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GenotypeQuality
all individuals: 148
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3060
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.151392915668725e-5
allele num: 31732
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3962
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4880
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 462
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

DP
type: SiteQuality
SIO_000300: 8.74705e5

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.292e1

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.946e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.64e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 351
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 9.25e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4656
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3102
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9598
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4072
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 9.247842170160296e-5
allele num: 32440
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4968
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 466
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.95e0

DP
type: SiteQuality
SIO_000300: 8.84121e5

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.28e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

GenotypeQuality
all individuals: 1719
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 787
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 149
bin: 8.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1685
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 164
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1751
bin: 6.75e1
variant carriers: 1

Latino
type: Population
allele count: 1
allele frequency: 2.055076037813399e-4
allele num: 4866
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5122
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3144
num of homozygotes: 0

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

East Asian
type: Population
allele count: 152
allele frequency: 3.484640073360844e-2
allele num: 4362
num of homozygotes: 2

South Asian
type: Population
allele count: 12
allele frequency: 1.235076163030054e-3
allele num: 9716
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.989357885926103e-5
allele num: 33452
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.226e0

QD
type: SiteQuality
SIO_000300: 1.09e1

DP
type: SiteQuality
SIO_000300: 9.01268e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.24e0

FS
type: SiteQuality
SIO_000300: 5.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.32e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

GenotypeQuality
all individuals: 1571
bin: 2.75e1
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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 394
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variant carriers: 0

GenotypeQuality
all individuals: 19445
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34532
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4506
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9842
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 480
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5142
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.914241960183767e-4
allele num: 5224
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3218
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.17e-1

FS
type: SiteQuality
SIO_000300: 1.854e0

VQSLOD
type: SiteQuality
SIO_000300: 2.42e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.379999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.234e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.1e-2

DP
type: SiteQuality
SIO_000300: 9.15756e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-2

GenotypeQuality
all individuals: 137
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 706
bin: 3.75e1
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: 304
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variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.919385796545106e-4
allele num: 5210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34884
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4538
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 478
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3244
num of homozygotes: 0

African
type: Population
allele count: 42
allele frequency: 7.954545454545454e-3
allele num: 5280
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9884
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

MQRankSum
type: SiteQuality
SIO_000300: -6.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.412e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.82e-1

FS
type: SiteQuality
SIO_000300: 5.2e-1

QD
type: SiteQuality
SIO_000300: 1.166e1

DP
type: SiteQuality
SIO_000300: 9.21474e5

GenotypeQuality
all individuals: 16291
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29336
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variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3256
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5484
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10208
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.105263157894737e-4
allele num: 4750
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36228
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5570
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.95e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e-1

QD
type: SiteQuality
SIO_000300: 7.17e0

VQSLOD
type: SiteQuality
SIO_000300: -6.577e-1

DP
type: SiteQuality
SIO_000300: 9.04402e5

GenotypeQuality
all individuals: 1805
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1618
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15254
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 770
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1606
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1190
bin: 1.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 2.126754572522331e-4
allele num: 4702
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5488
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5400
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 476
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3200
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.802533490275209e-5
allele num: 35682
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.77e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

FS
type: SiteQuality
SIO_000300: 2.366e0

MQRankSum
type: SiteQuality
SIO_000300: 9.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

DP
type: SiteQuality
SIO_000300: 8.94807e5

GenotypeQuality
all individuals: 352
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1582
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14295
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1645
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 904
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 957
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5424
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10126
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5352
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4678
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3118
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35254
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.418e0

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.200000000000001e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.213e0

MQRankSum
type: SiteQuality
SIO_000300: -4.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.73e-1

DP
type: SiteQuality
SIO_000300: 8.86531e5

QD
type: SiteQuality
SIO_000300: 1.047e1

GenotypeQuality
all individuals: 441
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 3.75e1
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GenotypeQuality
all individuals: 30050
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 9.75e1
variant carriers: 16

GenotypeQuality
all individuals: 14616
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1587
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5358
num of homozygotes: 0

East Asian
type: Population
allele count: 18
allele frequency: 3.854389721627409e-3
allele num: 4670
num of homozygotes: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5394
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3148
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10130
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35248
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.538e0

DP
type: SiteQuality
SIO_000300: 8.81222e5

VQSLOD
type: SiteQuality
SIO_000300: 3.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.166e0

QD
type: SiteQuality
SIO_000300: 7.3e0

MQ
type: SiteQuality
SIO_000300: 5.359e1

GenotypeQuality
all individuals: 127
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variant carriers: 0

GenotypeQuality
all individuals: 429
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GenotypeQuality
all individuals: 13546
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GenotypeQuality
all individuals: 443
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GenotypeQuality
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GenotypeQuality
all individuals: 750
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variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 9.25e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5244
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3010
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4514
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.97441998810232e-4
allele num: 10086
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.902757619738752e-5
allele num: 34450
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 462
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5256
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.68e-1

QD
type: SiteQuality
SIO_000300: 1.154e1

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

FS
type: SiteQuality
SIO_000300: 4.459e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

DP
type: SiteQuality
SIO_000300: 8.70851e5

GenotypeQuality
all individuals: 528
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variant carriers: 0

GenotypeQuality
all individuals: 750
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GenotypeQuality
all individuals: 30143
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GenotypeQuality
all individuals: 153
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GenotypeQuality
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GenotypeQuality
all individuals: 824
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GenotypeQuality
all individuals: 443
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10086
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34450
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3010
num of homozygotes: 0

African
type: Population
allele count: 11
allele frequency: 2.092846270928463e-3
allele num: 5256
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4514
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 462
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.906941266209001e-4
allele num: 5244
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.68e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-2

QD
type: SiteQuality
SIO_000300: 1.154e1

MQRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

FS
type: SiteQuality
SIO_000300: 4.459e0

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

DP
type: SiteQuality
SIO_000300: 8.70851e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

GenotypeQuality
all individuals: 275
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GenotypeQuality
all individuals: 292
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GenotypeQuality
all individuals: 1587
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GenotypeQuality
all individuals: 535
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GenotypeQuality
all individuals: 13407
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GenotypeQuality
all individuals: 336
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GenotypeQuality
all individuals: 158
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variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.946290033817386e-5
allele num: 10054
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5312
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3236
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 480
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5216
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34746
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4492
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.800000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.109e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.589e0

DP
type: SiteQuality
SIO_000300: 8.61123e5

QD
type: SiteQuality
SIO_000300: 1.59e1

MQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -5.353e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

GenotypeQuality
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bin: 1.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3242
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5288
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34480
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4448
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 5152
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 474
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10004
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-2

DP
type: SiteQuality
SIO_000300: 8.54708e5

MQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

FS
type: SiteQuality
SIO_000300: 3.818e0

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

QD
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SIO_000300: 8.75e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-3

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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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3242
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.160092807424594e-4
allele num: 34480
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 474
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 2.248201438848921e-4
allele num: 4448
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 5152
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.8910741301059e-4
allele num: 5288
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 10004
num of homozygotes: 0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

FS
type: SiteQuality
SIO_000300: 3.818e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-2

DP
type: SiteQuality
SIO_000300: 8.54708e5

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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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33988
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 464
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5226
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3194
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9960
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5074
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4394
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.15e0

MQRankSum
type: SiteQuality
SIO_000300: 5.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.94e-1

DP
type: SiteQuality
SIO_000300: 8.46343e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 5.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.900000000000001e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4220
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4828
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9864
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3206
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.008242584682029e-5
allele num: 33242
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 464
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.458e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.317e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.397e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.157e0

FS
type: SiteQuality
SIO_000300: 4.964e0

VQSLOD
type: SiteQuality
SIO_000300: -5.299e-1

DP
type: SiteQuality
SIO_000300: 8.18951e5

QD
type: SiteQuality
SIO_000300: 2.96e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.04e-2

GenotypeQuality
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variant carriers: 0

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: 5086
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4080
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.019367991845056e-4
allele num: 9810
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32430
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4696
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3174
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 446
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.14e-2

MQ
type: SiteQuality
SIO_000300: 4.892e1

MQRankSum
type: SiteQuality
SIO_000300: -3.387e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

FS
type: SiteQuality
SIO_000300: 5.119e0

VQSLOD
type: SiteQuality
SIO_000300: 1.35e0

QD
type: SiteQuality
SIO_000300: 5.6e0

DP
type: SiteQuality
SIO_000300: 8.03516e5

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.23e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10311
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variant carriers: 0

GenotypeQuality
all individuals: 1463
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4668
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32186
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 444
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3156
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5052
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.019783805833163e-4
allele num: 9806
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4066
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.952999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 5.2e0

DP
type: SiteQuality
SIO_000300: 7.99025e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.14e0

VQSLOD
type: SiteQuality
SIO_000300: -2.707e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.02e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

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: 1737
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variant carriers: 0

GenotypeQuality
all individuals: 920
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5008
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 424
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4596
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3126
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.145445395067942e-5
allele num: 31792
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3956
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9732
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.35e-1

FS
type: SiteQuality
SIO_000300: 1.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.22e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.92e0

VQSLOD
type: SiteQuality
SIO_000300: -1.786e0

DP
type: SiteQuality
SIO_000300: 7.85181e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.258e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.47e-1

QD
type: SiteQuality
SIO_000300: 9.029999999999999e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 401
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variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1419
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4356
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3064
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3708
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.044495508669313e-4
allele num: 9574
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.061855670103093e-4
allele num: 4850
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 30278
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.701e0

MQ
type: SiteQuality
SIO_000300: 5.894e1

VQSLOD
type: SiteQuality
SIO_000300: -1.132e0

MQRankSum
type: SiteQuality
SIO_000300: -3.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.29e-2

DP
type: SiteQuality
SIO_000300: 7.56951e5

QD
type: SiteQuality
SIO_000300: 8.75e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4326
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.046462955211386e-4
allele num: 9556
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3056
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 30218
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3698
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.024e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.658e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.911e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.48e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.03e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-2

DP
type: SiteQuality
SIO_000300: 7.50604e5

GenotypeQuality
all individuals: 110
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31147
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3936
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2950
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28348
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 400
num of homozygotes: 0

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

African
type: Population
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allele frequency: 0.0e0
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East Asian
type: Population
allele count: 7
allele frequency: 2.08955223880597e-3
allele num: 3350
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.59e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.072e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.18e-1

DP
type: SiteQuality
SIO_000300: 7.1744e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 8

GenotypeQuality
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bin: 4.75e1
variant carriers: 6

GenotypeQuality
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bin: 7.25e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9320
num of homozygotes: 0

Latino
type: Population
allele count: 14
allele frequency: 3.546099290780142e-3
allele num: 3948
num of homozygotes: 0

African
type: Population
allele count: 202
allele frequency: 4.408555216062855e-2
allele num: 4582
num of homozygotes: 3

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3342
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2932
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 3.886101886525825e-4
allele num: 28306
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.16938e5

VQSLOD
type: SiteQuality
SIO_000300: 3.95e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e0

FS
type: SiteQuality
SIO_000300: 7.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 1.452e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.63e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 105
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GenotypeQuality
all individuals: 125
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variant carriers: 0

South Asian
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allele count: 1
allele frequency: 1.090037061260083e-4
allele num: 9174
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.684055408193339e-5
allele num: 27144
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4338
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3694
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2878
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3122
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 392
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.82e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.93e-1

FS
type: SiteQuality
SIO_000300: 1.1548e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.657e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.475e0

QD
type: SiteQuality
SIO_000300: 7.78e0

DP
type: SiteQuality
SIO_000300: 6.9766e5

GenotypeQuality
all individuals: 903
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 244
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2878
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.090037061260083e-4
allele num: 9174
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 392
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4338
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3122
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3694
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27144
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.475e0

VQSLOD
type: SiteQuality
SIO_000300: -1.657e0

MQRankSum
type: SiteQuality
SIO_000300: -6.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.82e-2

FS
type: SiteQuality
SIO_000300: 1.1548e1

QD
type: SiteQuality
SIO_000300: 7.78e0

DP
type: SiteQuality
SIO_000300: 6.9766e5

GenotypeQuality
all individuals: 160
bin: 9.25e1
variant carriers: 7

GenotypeQuality
all individuals: 357
bin: 7.75e1
variant carriers: 8

GenotypeQuality
all individuals: 137
bin: 8.75e1
variant carriers: 12

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3890
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 1.164596273291925e-3
allele num: 2576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23688
num of homozygotes: 0

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

South Asian
type: Population
allele count: 208
allele frequency: 2.342870015769317e-2
allele num: 8878
num of homozygotes: 3

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2976
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2608
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.42e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.495e0

DP
type: SiteQuality
SIO_000300: 6.48137e5

QD
type: SiteQuality
SIO_000300: 1.146e1

FS
type: SiteQuality
SIO_000300: 1.779e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 4825
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2566
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.292582417582418e-5
allele num: 23296
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2886
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.140510948905109e-4
allele num: 8768
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2520
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 358
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3820
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.12e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.741e0

DP
type: SiteQuality
SIO_000300: 6.40635e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.33e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

GenotypeQuality
all individuals: 900
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 193
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2586
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.968253968253968e-4
allele num: 2520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3820
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 358
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23296
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8768
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.40635e5

QD
type: SiteQuality
SIO_000300: 6.12e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.33e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.741e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.26e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

GenotypeQuality
all individuals: 228
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 918
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4082
bin: 1.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2448
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.16795141322121e-4
allele num: 8562
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 7.836990595611285e-4
allele num: 2552
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3580
num of homozygotes: 0

East Asian
type: Population
allele count: 70
allele frequency: 3.105590062111801e-2
allele num: 2254
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21582
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 342
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 7.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.24e0

DP
type: SiteQuality
SIO_000300: 6.19532e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.64e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

QD
type: SiteQuality
SIO_000300: 1.377e1

GenotypeQuality
all individuals: 4104
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 990
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 228
bin: 8.25e1
variant carriers: 0

South 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: 21582
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2254
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2448
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 1.955307262569833e-3
allele num: 3580
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.918495297805642e-4
allele num: 2552
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 342
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 7.9e-1

DP
type: SiteQuality
SIO_000300: 6.19532e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.64e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

QD
type: SiteQuality
SIO_000300: 1.377e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.24e0

GenotypeQuality
all individuals: 122
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22867
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21580
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 4.537205081669691e-4
allele num: 2204
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 342
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2446
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.152e0

FS
type: SiteQuality
SIO_000300: 9.603e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.93e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.818e0

DP
type: SiteQuality
SIO_000300: 6.18338e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

MQRankSum
type: SiteQuality
SIO_000300: 1.39e0

QD
type: SiteQuality
SIO_000300: 1.492e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.313e0

GenotypeQuality
all individuals: 3067
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.066780456582035e-4
allele num: 18748
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2238
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 328
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3180
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1816
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1968
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8232
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.85191e5

FS
type: SiteQuality
SIO_000300: 2.217e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.33e-2

QD
type: SiteQuality
SIO_000300: 1.309e1

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

MQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.22e-1

GenotypeQuality
all individuals: 258
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2016
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1764
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.665689149560117e-4
allele num: 8184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2212
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3126
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 326
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQ
type: SiteQuality
SIO_000300: 5.446e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.231e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

QD
type: SiteQuality
SIO_000300: 1.025e1

DP
type: SiteQuality
SIO_000300: 5.81581e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.41e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.0e0

GenotypeQuality
all individuals: 185
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2064
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18256
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 1.165501165501166e-3
allele num: 1716
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3082
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2204
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1806
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.32e-2

VQSLOD
type: SiteQuality
SIO_000300: -5.794e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.31e-1

DP
type: SiteQuality
SIO_000300: 5.74439e5

QD
type: SiteQuality
SIO_000300: 1.697e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.31e-1

FS
type: SiteQuality
SIO_000300: 1.969e0

GenotypeQuality
all individuals: 311
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 19233
bin: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8114
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3068
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1812
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1696
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.467468562055768e-5
allele num: 18290
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2208
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e0

VQSLOD
type: SiteQuality
SIO_000300: 7.46e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.385e1

DP
type: SiteQuality
SIO_000300: 5.7412e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.067e0

GenotypeQuality
all individuals: 115
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17170
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 6.045949214026602e-4
allele num: 1654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2948
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2146
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 304
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

QD
type: SiteQuality
SIO_000300: 1.263e1

FS
type: SiteQuality
SIO_000300: 1.0344e1

DP
type: SiteQuality
SIO_000300: 5.65565e5

MQRankSum
type: SiteQuality
SIO_000300: 4.91e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.13e-2

VQSLOD
type: SiteQuality
SIO_000300: -7.972e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e-1

GenotypeQuality
all individuals: 743
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2948
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1546
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.824111822947e-5
allele num: 17170
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2146
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.91e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -7.972e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.13e-2

QD
type: SiteQuality
SIO_000300: 1.263e1

FS
type: SiteQuality
SIO_000300: 1.0344e1

DP
type: SiteQuality
SIO_000300: 5.65565e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

GenotypeQuality
all individuals: 1203
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 750
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2982
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8060
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1598
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1680
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2170
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.131e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -9.612000000000001e-1

DP
type: SiteQuality
SIO_000300: 5.63503e5

FS
type: SiteQuality
SIO_000300: 4.26e0

MQRankSum
type: SiteQuality
SIO_000300: -1.517e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.43e-2

GenotypeQuality
all individuals: 2027
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2033
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5004
bin: 1.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.011783094865938e-5
allele num: 16634
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2900
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7920
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2110
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1438
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.53769e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.11e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.74e0

QD
type: SiteQuality
SIO_000300: 1.405e1

FS
type: SiteQuality
SIO_000300: 2.258e0

VQSLOD
type: SiteQuality
SIO_000300: 3.16e0

MQRankSum
type: SiteQuality
SIO_000300: 2.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

GenotypeQuality
all individuals: 478
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 727
bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 16013
bin: 2.25e1
variant carriers: 5

African
type: Population
allele count: 31
allele frequency: 1.068965517241379e-2
allele num: 2900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1438
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2110
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7920
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16634
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.273885350318471e-3
allele num: 1570
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

QD
type: SiteQuality
SIO_000300: 1.405e1

FS
type: SiteQuality
SIO_000300: 2.258e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.11e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.16e0

DP
type: SiteQuality
SIO_000300: 5.53769e5

GenotypeQuality
all individuals: 1652
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 147
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7519
bin: 1.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1282
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1324
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7766
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2026
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14864
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2696
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.89e-2

QD
type: SiteQuality
SIO_000300: 1.33e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

FS
type: SiteQuality
SIO_000300: 5.815e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.42693e5

VQSLOD
type: SiteQuality
SIO_000300: -5.1e-3

GenotypeQuality
all individuals: 4665
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1025
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2143
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6974
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53710
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.260397830018083e-4
allele num: 8848
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7628
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14598
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5794
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.52e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.67e-1

DP
type: SiteQuality
SIO_000300: 1.024648e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

QD
type: SiteQuality
SIO_000300: 1.063e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2545
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1730
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 13909
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14726
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7730
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5866
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7064
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8998
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.842502855879427e-5
allele num: 54274
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.77e-1

QD
type: SiteQuality
SIO_000300: 1.49e1

DP
type: SiteQuality
SIO_000300: 1.063364e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-2

MQ
type: SiteQuality
SIO_000300: 5.895e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

GenotypeQuality
all individuals: 609
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4047
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54922
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5876
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14798
num of homozygotes: 0

East Asian
type: Population
allele count: 36
allele frequency: 5.016722408026756e-3
allele num: 7176
num of homozygotes: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9132
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7788
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.302083333333333e-3
allele num: 768
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.56e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.309e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.179e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.01e-1

DP
type: SiteQuality
SIO_000300: 1.118906e6

GenotypeQuality
all individuals: 1134
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1711
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 955
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7812
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5880
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55176
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.089561996077577e-4
allele num: 9178
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14826
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.127038e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.27e0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

VQSLOD
type: SiteQuality
SIO_000300: -1.917e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.18e-1

FS
type: SiteQuality
SIO_000300: 2.733e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.06e-1

QD
type: SiteQuality
SIO_000300: 4.91e0

GenotypeQuality
all individuals: 1233
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 832
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.032631144155308e-4
allele num: 9684
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8130
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6014
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57670
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15076
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.186e1

DP
type: SiteQuality
SIO_000300: 1.241416e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.41e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.39e0

FS
type: SiteQuality
SIO_000300: 2.578e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e-1

GenotypeQuality
all individuals: 360
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 920
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.460024600246002e-4
allele num: 8130
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9684
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6014
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57670
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15076
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.186e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.41e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.41e-1

FS
type: SiteQuality
SIO_000300: 2.578e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.39e0

DP
type: SiteQuality
SIO_000300: 1.241416e6