17-66891181-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66891181
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66891181
    reference: chr 17
allele count: 2
allele frequency: 1.688191103232886e-5
allele num: 118470
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2765-27T>C
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2645-27T>C
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2765-27T>C
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2776-27T>C
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.295-27T>C
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1707-27T>C
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4630
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18836
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4785
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6810
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23166
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2425
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3694
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9435
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

17-66891203-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66891203
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66891203
    reference: chr 17
allele count: 1
allele frequency: 8.659208202002008e-6
allele num: 115484
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2776-49A>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2765-49A>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2765-49A>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2645-49A>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1707-49A>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.295-49A>G
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11490
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4765
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9423
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5164
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6417
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2658
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 2489
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1790
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3443
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2661
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2166
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD

17-66898803-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66898803
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66898803
    reference: chr 17
allele count: 3
allele frequency: 2.533270283050733e-5
allele num: 118424
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1706+51A>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2644+51A>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2764+51A>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.294+51A>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2775+51A>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2764+51A>G
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2975
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11728
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7982
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 3
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4369
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD

17-66898805-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66898805
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66898805
    reference: chr 17
allele count: 1
allele frequency: 8.455801525426595e-6
allele num: 118262
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2644+49G>A
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2764+49G>A
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2775+49G>A
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2764+49G>A
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.294+49G>A
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1706+49G>A
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7985
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11737
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6817
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3448
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12561
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4339
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

17-66898816-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66898816
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66898816
    reference: chr 17
allele count: 1
allele frequency: 8.430992327796981e-6
allele num: 118610
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2775+38T>C
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2764+38T>C
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2644+38T>C
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.294+38T>C
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2764+38T>C
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1706+38T>C
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8007
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13656
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4898
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5030
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3456
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6953
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14868
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP

17-66898818-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66898818
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66898817
    reference: chr 17
allele count: 5
allele frequency: 4.213435804092089e-5
allele num: 118668
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.294+35delT
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2644+35delT
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2764+35delT
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2764+35delT
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2775+35delT
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1706+35delT
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13711
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8380
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11952
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6969
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2276
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14871
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 4307
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3500
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1361
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3462
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: TA
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

17-66898846-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66898846
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66898846
    reference: chr 17
allele count: 1
allele frequency: 8.326810664979099e-6
allele num: 120094
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2644+8G>A
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2764+8G>A
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2764+8G>A
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.294+8G>A
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1706+8G>A
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2775+8G>A
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4905
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14444
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5058
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4323
  bin: 8.25e1
  variant carriers: 0
hgvs: c.2644+8G>A
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

17-66898849-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66898849
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66898849
    reference: chr 17
allele count: 44
allele frequency: 3.657948555941673e-4
allele num: 120286
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2764+5A>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2764+5A>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1706+5A>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2644+5A>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.294+5A>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2775+5A>G
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8032
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12119
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14523
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10686
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4902
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18302
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2283
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3465
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 3.25e1
  variant carriers: 0
hgvs: c.2644+5A>G
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

17-66898862-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66898862
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66898862
    reference: chr 17
allele count: 1
allele frequency: 8.270067318347971e-6
allele num: 120918
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2756A>G
  hgvsp: ENSP00000467271.1:p.Asn919Ser
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2767A>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2756A>G
  hgvsp: ENSP00000402814.2:p.Asn919Ser
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.286A>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1698A>G
  hgvsp: ENSP00000467186.1:p.Asn567Ser
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2636A>G
  hgvsp: ENSP00000269080.1:p.Asn879Ser
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4906
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14787
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11100
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12184
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8044
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4330
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3468
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5068
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19205
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn879Ser
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-66898887-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66898887
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66898887
    reference: chr 17
allele count: 5
allele frequency: 4.121332014507089e-5
allele num: 121320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.261C>T
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2731C>T
  hgvsp: ENSP00000402814.2:p.Pro911Ser
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2742C>T
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2731C>T
  hgvsp: ENSP00000467271.1:p.Pro911Ser
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1673C>T
  hgvsp: ENSP00000467186.1:p.Pro559Ser
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2611C>T
  hgvsp: ENSP00000269080.1:p.Pro871Ser
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15051
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4909
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12213
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3562
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4324
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7298
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro871Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD

17-66898891-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66898891
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66898891
    reference: chr 17
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2607T>C
  hgvsp: ENST00000269080.2:c.2607T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2727T>C
  hgvsp: ENST00000586539.1:c.2727T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2727T>C
  hgvsp: ENST00000430352.2:c.2727T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.257T>C
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1669T>C
  hgvsp: ENST00000589533.1:c.1669T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2738T>C
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11204
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8044
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4907
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2284
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19737
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7300
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3564
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
hgvs: p.His869His
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD

17-66898892-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66898892
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66898892
    reference: chr 17
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2737A>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2606A>G
  hgvsp: ENSP00000269080.1:p.His869Arg
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2726A>G
  hgvsp: ENSP00000402814.2:p.His909Arg
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.256A>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2726A>G
  hgvsp: ENSP00000467271.1:p.His909Arg
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1668A>G
  hgvsp: ENSP00000467186.1:p.His557Arg
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8045
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4906
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4324
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19737
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7302
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.His869Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

17-66898909-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66898909
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66898909
    reference: chr 17
allele count: 2
allele frequency: 1.647853670594051e-5
allele num: 121370
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2589T>C
  hgvsp: ENST00000269080.2:c.2589T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2709T>C
  hgvsp: ENST00000586539.1:c.2709T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1651T>C
  hgvsp: ENST00000589533.1:c.1651T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.239T>C
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2709T>C
  hgvsp: ENST00000430352.2:c.2709T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2720T>C
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12224
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4908
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15102
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8045
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5075
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3563
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala863Ala
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

17-66898926-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66898926
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66898926
    reference: chr 17
allele count: 2
allele frequency: 1.647880825258717e-5
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2692C>T
  hgvsp: ENSP00000402814.2:p.His898Tyr
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2572C>T
  hgvsp: ENSP00000269080.1:p.His858Tyr
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2692C>T
  hgvsp: ENSP00000467271.1:p.His898Tyr
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.222C>T
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2703C>T
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1634C>T
  hgvsp: ENSP00000467186.1:p.His546Tyr
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8052
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12221
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3559
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2284
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3467
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4322
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7307
  bin: 6.75e1
  variant carriers: 0
hgvs: p.His858Tyr
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-66898951-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66898951
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66898950
    reference: chr 17
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2546delA
  hgvsp: ENSP00000269080.1:p.Asn849ThrfsTer28
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2677delA
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2666delA
  hgvsp: ENSP00000467271.1:p.Asn889ThrfsTer28
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2666delA
  hgvsp: ENSP00000402814.2:p.Asn889ThrfsTer28
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.196delA
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1608delA
  hgvsp: ENSP00000467186.1:p.Asn537ThrfsTer28
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11100
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8052
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19682
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7295
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4323
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asn849ThrfsTer28
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
reference allele: GT
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-66898955-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66898955
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66898955
    reference: chr 17
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2663A>G
  hgvsp: ENSP00000402814.2:p.Gln888Arg
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2543A>G
  hgvsp: ENSP00000269080.1:p.Gln848Arg
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2674A>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1605A>G
  hgvsp: ENSP00000467186.1:p.Gln536Arg
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.193A>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2663A>G
  hgvsp: ENSP00000467271.1:p.Gln888Arg
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8055
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4908
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7285
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19673
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2283
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14866
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5065
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3464
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln848Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

17-66898975-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66898975
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66898975
    reference: chr 17
allele count: 1
allele frequency: 8.263097008758882e-6
allele num: 121020
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.173T>C
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1585T>C
  hgvsp: ENST00000589533.1:c.1585T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2643T>C
  hgvsp: ENST00000430352.2:c.2643T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2523T>C
  hgvsp: ENST00000269080.2:c.2523T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2654T>C
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2643T>C
  hgvsp: ENST00000586539.1:c.2643T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15054
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10888
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4894
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12164
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19325
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3463
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2281
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7248
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4323
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Tyr841Tyr
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum

17-66898976-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66898976
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66898976
    reference: chr 17
allele count: 1
allele frequency: 8.263370132874991e-6
allele num: 121016
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2653A>C
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1584A>C
  hgvsp: ENSP00000467186.1:p.Tyr529Ser
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2642A>C
  hgvsp: ENSP00000467271.1:p.Tyr881Ser
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.172A>C
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2642A>C
  hgvsp: ENSP00000402814.2:p.Tyr881Ser
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2522A>C
  hgvsp: ENSP00000269080.1:p.Tyr841Ser
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10883
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12164
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4894
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3463
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14864
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2281
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5062
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Tyr841Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

17-66898983-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66898983
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66898983
    reference: chr 17
allele count: 5
allele frequency: 4.138250678673112e-5
allele num: 120824
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2646G>A
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2635G>A
  hgvsp: ENSP00000467271.1:p.Val879Met
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.165G>A
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2515G>A
  hgvsp: ENSP00000269080.1:p.Val839Met
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2635G>A
  hgvsp: ENSP00000402814.2:p.Val879Met
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1577G>A
  hgvsp: ENSP00000467186.1:p.Val527Met
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15050
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4893
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12150
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4315
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2281
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3463
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val839Met
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/17-66898987-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66898987
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66898987
    reference: chr 17
allele count: 1
allele frequency: 8.289124668435012e-6
allele num: 120640
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2642T>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.161T>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2631T>G
  hgvsp: ENST00000586539.1:c.2631T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1573T>G
  hgvsp: ENST00000589533.1:c.1573T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2511T>G
  hgvsp: ENST00000269080.2:c.2511T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2631T>G
  hgvsp: ENST00000430352.2:c.2631T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4892
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12126
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4315
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14861
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18728
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2281
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3541
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu837Leu
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

17-66898989-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66898989
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66898989
    reference: chr 17
allele count: 1
allele frequency: 8.289674381590291e-6
allele num: 120632
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2629C>T
  hgvsp: ENSP00000467271.1:p.Leu877Phe
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.159C>T
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2640C>T
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1571C>T
  hgvsp: ENSP00000467186.1:p.Leu525Phe
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2629C>T
  hgvsp: ENSP00000402814.2:p.Leu877Phe
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2509C>T
  hgvsp: ENSP00000269080.1:p.Leu837Phe
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12117
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4891
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4315
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18795
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3462
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3541
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu837Phe
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

17-66898992-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66898992
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66898992
    reference: chr 17
allele count: 1
allele frequency: 8.303165166561494e-6
allele num: 120436
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.156C>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2626C>G
  hgvsp: ENSP00000402814.2:p.Pro876Ala
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2626C>G
  hgvsp: ENSP00000467271.1:p.Pro876Ala
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2637C>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2506C>G
  hgvsp: ENSP00000269080.1:p.Pro836Ala
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1568C>G
  hgvsp: ENSP00000467186.1:p.Pro524Ala
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4894
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3541
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7163
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5055
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro836Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

17-66898993-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66898993
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66898993
    reference: chr 17
allele count: 1
allele frequency: 8.317945134833891e-6
allele num: 120222
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2625C>T
  hgvsp: ENST00000586539.1:c.2625C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1567C>T
  hgvsp: ENST00000589533.1:c.1567C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2625C>T
  hgvsp: ENST00000430352.2:c.2625C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2636C>T
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2505C>T
  hgvsp: ENST00000269080.2:c.2505C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.155C>T
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14877
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8023
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10117
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4889
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7112
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4313
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5050
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Cys835Cys
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD

17-66898993-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66898993
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66898993
    reference: chr 17
allele count: 2
allele frequency: 1.663589026966778e-5
allele num: 120222
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2625C>G
  hgvsp: ENSP00000467271.1:p.Cys875Trp
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2636C>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2505C>G
  hgvsp: ENSP00000269080.1:p.Cys835Trp
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.155C>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1567C>G
  hgvsp: ENSP00000467186.1:p.Cys523Trp
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2625C>G
  hgvsp: ENSP00000402814.2:p.Cys875Trp
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4889
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14877
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10117
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8023
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7112
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4313
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14854
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2279
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3532
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Cys835Trp
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/17-66898994-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66898994
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66898994
    reference: chr 17
allele count: 48
allele frequency: 3.994740258659432e-4
allele num: 120158
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.154G>T
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2624G>T
  hgvsp: ENSP00000402814.2:p.Cys875Phe
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2504G>T
  hgvsp: ENSP00000269080.1:p.Cys835Phe
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1566G>T
  hgvsp: ENSP00000467186.1:p.Cys523Phe
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2624G>T
  hgvsp: ENSP00000467271.1:p.Cys875Phe
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2635G>T
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14898
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12117
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8034
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4890
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 14810
  bin: 9.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18093
  bin: 6.25e1
  variant carriers: 3
hgvs: p.Cys835Phe
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP

17-66898999-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66898999
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66898999
    reference: chr 17
allele count: 1345
allele frequency: 1.169056931768796e-2
allele num: 115050
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2619A>G
  hgvsp: ENST00000430352.2:c.2619A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1561A>G
  hgvsp: ENST00000589533.1:c.1561A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2619A>G
  hgvsp: ENST00000586539.1:c.2619A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2630A>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2499A>G
  hgvsp: ENST00000269080.2:c.2499A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.149A>G
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 9627
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.25e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 8034
  bin: 3.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 4923
  bin: 4.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 4.75e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 9.75e1
  variant carriers: 590
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 5.25e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 11971
  bin: 3.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.75e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 5.75e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.75e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 6.25e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 14598
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.25e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.75e1
  variant carriers: 86
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 7.5e0
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 3.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 17487
  bin: 6.25e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 1.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 3.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 2144
  bin: 2.5e0
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 2210
  bin: 8.75e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 12857
  bin: 9.75e1
  variant carriers: 953
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 3318
  bin: 9.25e1
  variant carriers: 30
hgvs: p.Gly833Gly
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

17-66899017-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66899017
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66899017
    reference: chr 17
allele count: 1
allele frequency: 8.463530646444471e-6
allele num: 118154
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1543A>G
  hgvsp: ENST00000589533.1:c.1543A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.131A>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2481A>G
  hgvsp: ENST00000269080.2:c.2481A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2612A>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2601A>G
  hgvsp: ENST00000430352.2:c.2601A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2601A>G
  hgvsp: ENST00000586539.1:c.2601A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14445
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8276
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12177
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8188
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4989
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16179
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5049
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2695
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3469
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu827Leu
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD

17-66899020-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66899020
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66899020
    reference: chr 17
allele count: 1
allele frequency: 8.486803021301875e-6
allele num: 117830
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1540G>A
  hgvsp: ENST00000589533.1:c.1540G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2478G>A
  hgvsp: ENST00000269080.2:c.2478G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2598G>A
  hgvsp: ENST00000430352.2:c.2598G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2609G>A
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.128G>A
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2598G>A
  hgvsp: ENST00000586539.1:c.2598G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12149
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4988
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8184
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8050
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14273
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3469
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3519
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4337
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
hgvs: c.2478G>A
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

17-66899026-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66899026
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66899026
    reference: chr 17
allele count: 1
allele frequency: 8.528348229514908e-6
allele num: 117256
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.128-6G>C
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1540-6G>C
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2609-6G>C
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2478-6G>C
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2598-6G>C
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2598-6G>C
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2853
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7758
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14228
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4989
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15463
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3508
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5031
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7041
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2283
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3233
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 3.75e1
  variant carriers: 0
hgvs: c.2478-6G>C
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-66899034-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66899034
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66899034
    reference: chr 17
allele count: 1
allele frequency: 8.567071603584462e-6
allele num: 116726
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2598-14T>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.128-14T>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2478-14T>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2609-14T>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2598-14T>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1540-14T>G
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2987
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2853
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7135
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3599
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6945
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14272
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4326
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3468
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

17-66899036-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66899036
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66899036
    reference: chr 17
allele count: 4
allele frequency: 3.429649318357198e-5
allele num: 116630
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2598-16A>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2598-16A>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1540-16A>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2478-16A>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2609-16A>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.128-16A>G
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8173
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12063
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7138
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4327
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6928
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3489
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3616
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14272
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2279
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

17-66899036-T-TAGCTTTTCACTTATTCAGCATG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66899036
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66899058
    reference: chr 17
allele count: 1
allele frequency: 8.574123295892996e-6
allele num: 116630
alternate allele: TAGCTTTTCACTTATTCAGCATG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13916
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7138
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12063
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8173
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6928
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3489
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5020
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2279
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

17-66899038-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66899038
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66899038
    reference: chr 17
allele count: 1
allele frequency: 8.583248931385508e-6
allele num: 116506
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1540-18C>T
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2609-18C>T
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2598-18C>T
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2478-18C>T
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2598-18C>T
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.128-18C>T
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6917
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14646
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3670
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3491
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2277
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

17-66899039-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66899039
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66899039
    reference: chr 17
allele count: 1
allele frequency: 8.600227045994014e-6
allele num: 116276
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1540-19G>A
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2598-19G>A
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.128-19G>A
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2609-19G>A
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2478-19G>A
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2598-19G>A
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13816
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4981
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3487
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genotype quality: GenotypeQuality
  all individuals: 676
  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3679
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6916
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 14543
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-66899058-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66899058
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66899058
    reference: chr 17
allele count: 1
allele frequency: 8.740800307676171e-6
allele num: 114406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2609-38T>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.128-38T>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2598-38T>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1540-38T>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2478-38T>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2598-38T>G
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11477
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12504
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8086
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4961
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3360
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14244
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2260
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11958
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6419
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-66899059-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66899059
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66899059
    reference: chr 17
allele count: 1
allele frequency: 8.751050126015123e-6
allele num: 114272
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1540-39A>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2609-39A>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2478-39A>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2598-39A>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2598-39A>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.128-39A>G
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4965
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8082
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2906
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12248
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6355
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3457
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4272
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3375
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3193
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4887
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP

17-66899064-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66899064
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66899064
    reference: chr 17
allele count: 839
allele frequency: 7.374397918644306e-3
allele num: 113772
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2598-44A>C
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2598-44A>C
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2609-44A>C
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1540-44A>C
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.128-44A>C
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2478-44A>C
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 5.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 8074
  bin: 3.75e1
  variant carriers: 152
genotype depth: GenotypeDepth
  all individuals: 2853
  bin: 7.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 11568
  bin: 2.75e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 4983
  bin: 4.25e1
  variant carriers: 130
genotype depth: GenotypeDepth
  all individuals: 3121
  bin: 1.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 6589
  bin: 2.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 1.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11105
  bin: 3.25e1
  variant carriers: 135
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 4.75e1
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 6.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 5.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2222
  bin: 8.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 6186
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14748
  bin: 9.75e1
  variant carriers: 827
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2990
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4760
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10188
  bin: 6.25e1
  variant carriers: 1
num of homozygotes: 10
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

17-66899392-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66899392
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66899392
    reference: chr 17
allele count: 1
allele frequency: 8.275131574592036e-6
allele num: 120844
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1539+50A>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2597+50A>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2477+50A>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.127+50A>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2608+50A>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2597+50A>G
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7736
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2055
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30857
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2797
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-66899393-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66899393
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66899393
    reference: chr 17
allele count: 1
allele frequency: 8.274446853227862e-6
allele num: 120854
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2597+49A>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2597+49A>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.127+49A>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2608+49A>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1539+49A>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2477+49A>G
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24952
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7828
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14572
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2057
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6268
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31177
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

17-66899398-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66899398
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66899398
    reference: chr 17
allele count: 3
allele frequency: 2.484184028352821e-5
allele num: 120764
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2477+44G>A
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2597+44G>A
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1539+44G>A
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2608+44G>A
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2597+44G>A
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.127+44G>A
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9523
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32243
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6259
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2756
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

17-66899399-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66899399
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66899399
    reference: chr 17
allele count: 2
allele frequency: 1.655053706492776e-5
allele num: 120842
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2597+43C>T
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2608+43C>T
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2477+43C>T
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2597+43C>T
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.127+43C>T
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1539+43C>T
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25173
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14641
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3173
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9569
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

17-66899399-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66899399
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66899399
    reference: chr 17
allele count: 1
allele frequency: 8.275268532463878e-6
allele num: 120842
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2597+43C>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2477+43C>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2608+43C>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.127+43C>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2597+43C>G
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1539+43C>G
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14641
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2747
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6254
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9569
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3173
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS

17-66899414-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66899414
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66899414
    reference: chr 17
allele count: 1
allele frequency: 8.259684480052863e-6
allele num: 121070
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2597+28C>A
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.127+28C>A
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2477+28C>A
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2608+28C>A
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2597+28C>A
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1539+28C>A
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14714
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9560
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3181
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9665
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2764
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-66899419-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66899419
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66899419
    reference: chr 17
allele count: 1
allele frequency: 8.253821519363466e-6
allele num: 121156
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.127+23G>T
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2608+23G>T
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2477+23G>T
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1539+23G>T
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2597+23G>T
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2597+23G>T
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6253
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2030
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP

17-66899425-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66899425
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66899425
    reference: chr 17
allele count: 1
allele frequency: 8.247966876165026e-6
allele num: 121242
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1539+17C>T
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2597+17C>T
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2477+17C>T
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2608+17C>T
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2597+17C>T
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.127+17C>T
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25743
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14751
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2031
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3193
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2775
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

17-66899431-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66899431
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66899431
    reference: chr 17
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2597+11G>C
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2608+11G>C
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1539+11G>C
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2477+11G>C
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.127+11G>C
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2597+11G>C
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34585
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2776
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6255
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9720
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

17-66899434-ATACT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66899434
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66899430
    reference: chr 17
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.127+4_127+7delAGTA
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2608+4_2608+7delAGTA
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1539+4_1539+7delAGTA
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2477+4_2477+7delAGTA
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2597+4_2597+7delAGTA
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2597+4_2597+7delAGTA
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25820
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6254
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
hgvs: c.2477+4_2477+7delAGTA
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: ATACT
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

17-66899436-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66899436
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66899436
    reference: chr 17
allele count: 155
allele frequency: 1.277633986712607e-3
allele num: 121318
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.127+6T>C
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2477+6T>C
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2597+6T>C
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2608+6T>C
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2597+6T>C
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1539+6T>C
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 25822
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 9710
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4006
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 14750
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 9.75e1
  variant carriers: 70
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34615
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2019
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9710
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
hgvs: c.2477+6T>C
num of homozygotes: 1
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

17-66899443-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66899443
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66899443
    reference: chr 17
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2596C>A
  hgvsp: ENSP00000467271.1:p.Leu866Met
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1538C>A
  hgvsp: ENSP00000467186.1:p.Leu514Met
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2607C>A
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.126C>A
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2596C>A
  hgvsp: ENSP00000402814.2:p.Leu866Met
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2476C>A
  hgvsp: ENSP00000269080.1:p.Leu826Met
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14800
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34725
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3197
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu826Met
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-66899460-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66899460
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66899460
    reference: chr 17
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.109G>T
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1521G>T
  hgvsp: ENSP00000467186.1:p.Arg508Ile
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2459G>T
  hgvsp: ENSP00000269080.1:p.Arg820Ile
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2590G>T
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2579G>T
  hgvsp: ENSP00000402814.2:p.Arg860Ile
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2579G>T
  hgvsp: ENSP00000467271.1:p.Arg860Ile
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9726
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25934
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14800
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2021
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3197
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34776
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2779
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg820Ile
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

17-66899464-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66899464
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66899464
    reference: chr 17
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.105G>A
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2575G>A
  hgvsp: ENSP00000467271.1:p.Glu859Lys
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1517G>A
  hgvsp: ENSP00000467186.1:p.Glu507Lys
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2455G>A
  hgvsp: ENSP00000269080.1:p.Glu819Lys
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2575G>A
  hgvsp: ENSP00000402814.2:p.Glu859Lys
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2586G>A
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2779
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6183
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu819Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

17-66899465-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66899465
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66899465
    reference: chr 17
allele count: 3
allele frequency: 2.471128976458378e-5
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2574T>C
  hgvsp: ENST00000430352.2:c.2574T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.104T>C
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2585T>C
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2574T>C
  hgvsp: ENST00000586539.1:c.2574T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2454T>C
  hgvsp: ENST00000269080.2:c.2454T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1516T>C
  hgvsp: ENST00000589533.1:c.1516T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2779
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
hgvs: p.His818His
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

17-66899467-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66899467
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66899467
    reference: chr 17
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2452C>T
  hgvsp: ENSP00000269080.1:p.His818Tyr
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2583C>T
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2572C>T
  hgvsp: ENSP00000467271.1:p.His858Tyr
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.102C>T
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2572C>T
  hgvsp: ENSP00000402814.2:p.His858Tyr
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1514C>T
  hgvsp: ENSP00000467186.1:p.His506Tyr
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9732
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2779
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2021
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 9.25e1
  variant carriers: 0
hgvs: p.His818Tyr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

17-66899467-GCTTTAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66899467
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66899461
    reference: chr 17
allele count: 4
allele frequency: 3.29489291598023e-5
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1508_1513delTTAAAG
  hgvsp: ENSP00000467186.1:p.Leu504_Lys505del
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2446_2451delTTAAAG
  hgvsp: ENSP00000269080.1:p.Leu816_Lys817del
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2566_2571delTTAAAG
  hgvsp: ENSP00000402814.2:p.Leu856_Lys857del
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2566_2571delTTAAAG
  hgvsp: ENSP00000467271.1:p.Leu856_Lys857del
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.96_101delTTAAAG
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2577_2582delTTAAAG
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6181
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2779
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34787
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu816_Lys817del
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: GCTTTAA
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum

17-66899471-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66899471
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66899471
    reference: chr 17
allele count: 56
allele frequency: 4.612926077859602e-4
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.98A>C
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2448A>C
  hgvsp: ENSP00000269080.1:p.Leu816Phe
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2568A>C
  hgvsp: ENSP00000467271.1:p.Leu856Phe
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2579A>C
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1510A>C
  hgvsp: ENSP00000467186.1:p.Leu504Phe
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2568A>C
  hgvsp: ENSP00000402814.2:p.Leu856Phe
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 9.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14797
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6198
  bin: 9.75e1
  variant carriers: 56
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34783
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2015
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu816Phe
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

17-66899474-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66899474
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66899473
    reference: chr 17
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2564delA
  hgvsp: ENSP00000402814.2:p.Lys855SerfsTer2
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.94delA
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2575delA
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1506delA
  hgvsp: ENSP00000467186.1:p.Lys503SerfsTer2
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2444delA
  hgvsp: ENSP00000269080.1:p.Lys815SerfsTer2
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2564delA
  hgvsp: ENSP00000467271.1:p.Lys855SerfsTer2
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14809
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9723
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2019
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34814
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Lys815SerfsTer2
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: CT
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-66899479-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66899479
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66899479
    reference: chr 17
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2560T>C
  hgvsp: ENST00000430352.2:c.2560T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1502T>C
  hgvsp: ENST00000589533.1:c.1502T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.90T>C
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2440T>C
  hgvsp: ENST00000269080.2:c.2440T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2571T>C
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2560T>C
  hgvsp: ENST00000586539.1:c.2560T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25956
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3199
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6155
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu814Leu
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-66899480-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66899480
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66899480
    reference: chr 17
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2570G>T
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1501G>T
  hgvsp: ENSP00000467186.1:p.Leu501Phe
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2559G>T
  hgvsp: ENSP00000467271.1:p.Leu853Phe
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2559G>T
  hgvsp: ENSP00000402814.2:p.Leu853Phe
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2439G>T
  hgvsp: ENSP00000269080.1:p.Leu813Phe
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.89G>T
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2778
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34818
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3198
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu813Phe
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

17-66899480-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66899480
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66899480
    reference: chr 17
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.89G>C
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2559G>C
  hgvsp: ENSP00000402814.2:p.Leu853Phe
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2570G>C
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2439G>C
  hgvsp: ENSP00000269080.1:p.Leu813Phe
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2559G>C
  hgvsp: ENSP00000467271.1:p.Leu853Phe
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1501G>C
  hgvsp: ENSP00000467186.1:p.Leu501Phe
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9732
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34818
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu813Phe
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff

17-66899481-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66899481
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66899481
    reference: chr 17
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.88T>C
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2558T>C
  hgvsp: ENSP00000467271.1:p.Leu853Ser
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1500T>C
  hgvsp: ENSP00000467186.1:p.Leu501Ser
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2438T>C
  hgvsp: ENSP00000269080.1:p.Leu813Ser
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2558T>C
  hgvsp: ENSP00000402814.2:p.Leu853Ser
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2569T>C
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14812
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2778
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9732
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu813Ser
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

17-66899484-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66899484
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66899484
    reference: chr 17
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2555G>A
  hgvsp: ENSP00000467271.1:p.Arg852His
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2435G>A
  hgvsp: ENSP00000269080.1:p.Arg812His
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2555G>A
  hgvsp: ENSP00000402814.2:p.Arg852His
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2566G>A
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.85G>A
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1497G>A
  hgvsp: ENSP00000467186.1:p.Arg500His
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6151
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3198
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg812His
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

17-66899485-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66899485
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66899485
    reference: chr 17
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.84C>T
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2554C>T
  hgvsp: ENSP00000467271.1:p.Arg852Cys
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2565C>T
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2554C>T
  hgvsp: ENSP00000402814.2:p.Arg852Cys
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2434C>T
  hgvsp: ENSP00000269080.1:p.Arg812Cys
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1496C>T
  hgvsp: ENSP00000467186.1:p.Arg500Cys
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34822
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6151
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2778
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg812Cys
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

17-66899487-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66899487
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66899487
    reference: chr 17
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2432T>C
  hgvsp: ENSP00000269080.1:p.Val811Ala
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.82T>C
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2552T>C
  hgvsp: ENSP00000467271.1:p.Val851Ala
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1494T>C
  hgvsp: ENSP00000467186.1:p.Val499Ala
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2563T>C
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2552T>C
  hgvsp: ENSP00000402814.2:p.Val851Ala
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25957
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6150
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34821
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3198
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9733
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val811Ala
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/17-66899494-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66899494
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66899494
    reference: chr 17
allele count: 2
allele frequency: 1.647392178181938e-5
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2545G>T
  hgvsp: ENSP00000402814.2:p.Ala849Ser
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1487G>T
  hgvsp: ENSP00000467186.1:p.Ala497Ser
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2556G>T
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.75G>T
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2545G>T
  hgvsp: ENSP00000467271.1:p.Ala849Ser
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2425G>T
  hgvsp: ENSP00000269080.1:p.Ala809Ser
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9732
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2017
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3198
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala809Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum

17-66899494-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66899494
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66899494
    reference: chr 17
allele count: 5
allele frequency: 4.118480445454845e-5
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2545G>A
  hgvsp: ENSP00000467271.1:p.Ala849Thr
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1487G>A
  hgvsp: ENSP00000467186.1:p.Ala497Thr
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2545G>A
  hgvsp: ENSP00000402814.2:p.Ala849Thr
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.75G>A
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2425G>A
  hgvsp: ENSP00000269080.1:p.Ala809Thr
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2556G>A
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3198
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34822
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6153
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2777
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala809Thr
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-66899494-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66899494
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66899493
    reference: chr 17
allele count: 4
allele frequency: 3.294784356363876e-5
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2555delT
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2544delT
  hgvsp: ENSP00000467271.1:p.Ile848MetfsTer7
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1486delT
  hgvsp: ENSP00000467186.1:p.Ile496MetfsTer7
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2544delT
  hgvsp: ENSP00000402814.2:p.Ile848MetfsTer7
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2424delT
  hgvsp: ENSP00000269080.1:p.Ile808MetfsTer7
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.74delT
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2777
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9732
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34822
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6153
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile808MetfsTer7
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: CA
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/17-66899500-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66899500
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66899500
    reference: chr 17
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2419G>T
  hgvsp: ENSP00000269080.1:p.Ala807Ser
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2539G>T
  hgvsp: ENSP00000467271.1:p.Ala847Ser
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1481G>T
  hgvsp: ENSP00000467186.1:p.Ala495Ser
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2550G>T
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2539G>T
  hgvsp: ENSP00000402814.2:p.Ala847Ser
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.69G>T
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3198
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9734
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala807Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

17-66899501-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66899501
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66899501
    reference: chr 17
allele count: 5
allele frequency: 4.118480445454845e-5
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2538C>T
  hgvsp: ENST00000430352.2:c.2538C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2418C>T
  hgvsp: ENST00000269080.2:c.2418C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2549C>T
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2538C>T
  hgvsp: ENST00000586539.1:c.2538C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.68C>T
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1480C>T
  hgvsp: ENST00000589533.1:c.1480C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14816
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3198
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2778
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9734
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34828
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Cys806Cys
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP

17-66899512-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66899512
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66899512
    reference: chr 17
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.57C>T
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2407C>T
  hgvsp: ENSP00000269080.1:p.Gln803Ter
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2527C>T
  hgvsp: ENSP00000467271.1:p.Gln843Ter
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2527C>T
  hgvsp: ENSP00000402814.2:p.Gln843Ter
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2538C>T
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1469C>T
  hgvsp: ENSP00000467186.1:p.Gln491Ter
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2777
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9734
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln803Ter
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/17-66899514-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66899514
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66899514
    reference: chr 17
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2536G>T
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2405G>T
  hgvsp: ENSP00000269080.1:p.Arg802Leu
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.55G>T
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2525G>T
  hgvsp: ENSP00000467271.1:p.Arg842Leu
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1467G>T
  hgvsp: ENSP00000467186.1:p.Arg490Leu
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2525G>T
  hgvsp: ENSP00000402814.2:p.Arg842Leu
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9720
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6140
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34828
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2777
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9734
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg802Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS

17-66899515-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66899515
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66899515
    reference: chr 17
allele count: 7
allele frequency: 5.765777638666952e-5
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.54C>T
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2404C>T
  hgvsp: ENSP00000269080.1:p.Arg802Ter
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2535C>T
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2524C>T
  hgvsp: ENSP00000467271.1:p.Arg842Ter
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2524C>T
  hgvsp: ENSP00000402814.2:p.Arg842Ter
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1466C>T
  hgvsp: ENSP00000467186.1:p.Arg490Ter
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3199
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6143
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9734
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg802Ter
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

17-66899519-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66899519
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66899519
    reference: chr 17
allele count: 10
allele frequency: 8.236825198095645e-5
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2520C>T
  hgvsp: ENST00000430352.2:c.2520C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2531C>T
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.50C>T
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2400C>T
  hgvsp: ENST00000269080.2:c.2400C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2520C>T
  hgvsp: ENST00000586539.1:c.2520C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1462C>T
  hgvsp: ENST00000589533.1:c.1462C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 34829
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3199
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2777
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6141
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 9734
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu800Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-66899526-A-AC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66899526
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 66899527
    reference: chr 17
allele count: 4
allele frequency: 3.294730079238259e-5
allele num: 121406
alternate allele: AC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000402814
  ensembl transcript: ENST00000430352
  gene symbol: ABCA8
  hgvsc: ENST00000430352.2:c.2512dupG
  hgvsp: ENSP00000402814.2:p.Val838GlyfsTer22
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000269080
  ensembl transcript: ENST00000269080
  gene symbol: ABCA8
  hgvsc: ENST00000269080.2:c.2392dupG
  hgvsp: ENSP00000269080.1:p.Val798GlyfsTer22
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000541225
  gene symbol: ABCA8
  hgvsc: ENST00000541225.1:n.2523dupG
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467271
  ensembl transcript: ENST00000586539
  gene symbol: ABCA8
  hgvsc: ENST00000586539.1:c.2512dupG
  hgvsp: ENSP00000467271.1:p.Val838GlyfsTer22
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141338
  ensembl protein: ENSP00000467186
  ensembl transcript: ENST00000589533
  gene symbol: ABCA8
  hgvsc: ENST00000589533.1:c.1454dupG
  hgvsp: ENSP00000467186.1:p.Val486GlyfsTer22
  variant of: http://identifiers.org/hgnc/38
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141338
  ensembl transcript: ENST00000590359
  gene symbol: ABCA8
  hgvsc: ENST00000590359.1:n.42dupG
  variant of: http://identifiers.org/hgnc/38
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14820
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val798GlyfsTer22
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 1641
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7783
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3519
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2579
bin: 7.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14872
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.163873370577281e-4
allele num: 8592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520357588104722e-5
allele num: 65774
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.73e0

MQRankSum
type: SiteQuality
SIO_000300: -8.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.5e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.573e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 2.030327e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

GenotypeQuality
all individuals: 5077
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4872
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2341
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4080
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3191
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1631
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1315
bin: 1.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.575757575757576e-5
allele num: 13200
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64788
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11308
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.155e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.84e-1

QD
type: SiteQuality
SIO_000300: 1.902e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.83e-1

DP
type: SiteQuality
SIO_000300: 1.904098e6

FS
type: SiteQuality
SIO_000300: 4.031e0

VQSLOD
type: SiteQuality
SIO_000300: -1.112e0

GenotypeQuality
all individuals: 1131
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 7.5e0
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GenotypeQuality
all individuals: 646
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3492
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variant carriers: 0

GenotypeQuality
all individuals: 1124
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variant carriers: 0

GenotypeQuality
all individuals: 5101
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14420
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65970
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.598302442404296e-4
allele num: 11546
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -2.529e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

MQRankSum
type: SiteQuality
SIO_000300: 7.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

DP
type: SiteQuality
SIO_000300: 2.066604e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.17e-1

FS
type: SiteQuality
SIO_000300: 2.365e0

QD
type: SiteQuality
SIO_000300: 1.762e1

GenotypeQuality
all individuals: 1106
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3473
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14855
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1091
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2264
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5068
bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14328
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517312536036173e-5
allele num: 65906
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 3.245e0

QD
type: SiteQuality
SIO_000300: 1.193e1

MQ
type: SiteQuality
SIO_000300: 5.939e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.663e0

MQRankSum
type: SiteQuality
SIO_000300: -9.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.41e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.49e-1

DP
type: SiteQuality
SIO_000300: 2.068006e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

GenotypeQuality
all individuals: 1006
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3499
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15180
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4305
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 824
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2278
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514692517418964e-5
allele num: 66020
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14546
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.54e-1

QD
type: SiteQuality
SIO_000300: 1.536e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.32e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

DP
type: SiteQuality
SIO_000300: 2.083248e6

GenotypeQuality
all individuals: 652
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5029
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variant carriers: 0

GenotypeQuality
all individuals: 15363
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 961
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.571856922191598e-5
allele num: 66034
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14584
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.897e0

VQSLOD
type: SiteQuality
SIO_000300: 3.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.86e-1

QD
type: SiteQuality
SIO_000300: 1.435e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

DP
type: SiteQuality
SIO_000300: 2.085958e6

GenotypeQuality
all individuals: 14873
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3548
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 18253
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7183
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2283
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3464
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15582
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506250941406838e-5
allele num: 66390
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

MQ
type: SiteQuality
SIO_000300: 5.876e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e0

VQSLOD
type: SiteQuality
SIO_000300: -7.454e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.82e-1

QD
type: SiteQuality
SIO_000300: 1.061e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.98e-1

DP
type: SiteQuality
SIO_000300: 2.122913e6

GenotypeQuality
all individuals: 625
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7210
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3550
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4320
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14896
bin: 9.75e1
variant carriers: 44

GenotypeQuality
all individuals: 86
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variant carriers: 0

GenotypeQuality
all individuals: 5064
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.272750413643884e-4
allele num: 15714
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.728608470181504e-4
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 39
allele frequency: 5.869251143751505e-4
allele num: 66448
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e0

DP
type: SiteQuality
SIO_000300: 2.126816e6

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-2

MQ
type: SiteQuality
SIO_000300: 5.959e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.59e0

QD
type: SiteQuality
SIO_000300: 1.363e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

GenotypeQuality
all individuals: 280
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2287
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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: 23
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GenotypeQuality
all individuals: 7248
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variant carriers: 0

GenotypeQuality
all individuals: 14865
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3563
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66580
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.17283950617284e-5
allele num: 16200
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.34e0

MQRankSum
type: SiteQuality
SIO_000300: 2.95e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.71e-1

FS
type: SiteQuality
SIO_000300: 2.202e0

DP
type: SiteQuality
SIO_000300: 2.134995e6

MQ
type: SiteQuality
SIO_000300: 5.923e1

VQSLOD
type: SiteQuality
SIO_000300: -1.401e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 9.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.52e-1

GenotypeQuality
all individuals: 5075
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3465
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variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
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GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 19704
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14868
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 2284
bin: 8.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

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

African
type: Population
allele count: 5
allele frequency: 4.804920238324044e-4
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.09e-1

FS
type: SiteQuality
SIO_000300: 2.459e0

DP
type: SiteQuality
SIO_000300: 2.141976e6

MQRankSum
type: SiteQuality
SIO_000300: 3.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.948e1

VQSLOD
type: SiteQuality
SIO_000300: 9.71e-1

QD
type: SiteQuality
SIO_000300: 1.207e1

GenotypeQuality
all individuals: 4324
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5071
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14866
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 3468
bin: 9.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 4.461e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.994e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-2

VQSLOD
type: SiteQuality
SIO_000300: -6.811e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.52e-1

MQ
type: SiteQuality
SIO_000300: 5.892e1

DP
type: SiteQuality
SIO_000300: 2.141991e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.92e-1

QD
type: SiteQuality
SIO_000300: 9.140000000000001e0

GenotypeQuality
all individuals: 5072
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3563
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3467
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2284
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

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

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

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.19e-1

DP
type: SiteQuality
SIO_000300: 2.142126e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.695e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

VQSLOD
type: SiteQuality
SIO_000300: 4.47e-1

FS
type: SiteQuality
SIO_000300: 5.319e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.48e1

GenotypeQuality
all individuals: 19756
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14866
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4325
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.570000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.52e-1

DP
type: SiteQuality
SIO_000300: 2.142683e6

QD
type: SiteQuality
SIO_000300: 1.222e1

MQRankSum
type: SiteQuality
SIO_000300: 6.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5070
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211680600993578e-4
allele num: 16506
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

DP
type: SiteQuality
SIO_000300: 2.142813e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.096e-1

QD
type: SiteQuality
SIO_000300: 8.449999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.497e0

FS
type: SiteQuality
SIO_000300: 1.716e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.99e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3557
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3466
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499925003749813e-5
allele num: 66670
num of homozygotes: 0

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e-1

DP
type: SiteQuality
SIO_000300: 2.142492e6

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

MQRankSum
type: SiteQuality
SIO_000300: -2.08e-1

QD
type: SiteQuality
SIO_000300: 1.431e1

FS
type: SiteQuality
SIO_000300: 2.875e0

MQ
type: SiteQuality
SIO_000300: 5.991e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.405e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.024e0

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4323
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3557
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.82e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.001e0

FS
type: SiteQuality
SIO_000300: 2.735e0

VQSLOD
type: SiteQuality
SIO_000300: -2.657e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.102e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

DP
type: SiteQuality
SIO_000300: 2.141859e6

MQ
type: SiteQuality
SIO_000300: 5.82e1

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3561
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 315
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 5059
bin: 7.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500645277469312e-5
allele num: 66638
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.72e0

VQSLOD
type: SiteQuality
SIO_000300: 3.72e0

QD
type: SiteQuality
SIO_000300: 1.536e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

DP
type: SiteQuality
SIO_000300: 2.136396e6

MQ
type: SiteQuality
SIO_000300: 5.976e1

FS
type: SiteQuality
SIO_000300: 5.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.91e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19339
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variant carriers: 0

GenotypeQuality
all individuals: 4321
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3558
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500780405811022e-5
allele num: 66632
num of homozygotes: 0

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.408e0

DP
type: SiteQuality
SIO_000300: 2.136375e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.89e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 8.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.24e0

MQRankSum
type: SiteQuality
SIO_000300: -2.041e0

QD
type: SiteQuality
SIO_000300: 1.583e1

VQSLOD
type: SiteQuality
SIO_000300: -2.388e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14864
bin: 9.75e1
variant carriers: 5

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66586
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16300
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 5
allele frequency: 4.892367906066536e-4
allele num: 10220
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.98e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.238e0

DP
type: SiteQuality
SIO_000300: 2.133595e6

FS
type: SiteQuality
SIO_000300: 5.2e-1

QD
type: SiteQuality
SIO_000300: 1.184e1

MQ
type: SiteQuality
SIO_000300: 5.958e1

GenotypeQuality
all individuals: 114
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7197
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3462
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5057
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10198
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502674761074713e-5
allele num: 66548
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16184
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.129742e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.77e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.870000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.21e1

MQ
type: SiteQuality
SIO_000300: 5.874e1

FS
type: SiteQuality
SIO_000300: 4.35e0

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

VQSLOD
type: SiteQuality
SIO_000300: -9.191e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.599e0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2281
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16174
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502765087761481e-5
allele num: 66544
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10198
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 8.44e-1

DP
type: SiteQuality
SIO_000300: 2.129686e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

MQRankSum
type: SiteQuality
SIO_000300: 6.05e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.54e-1

QD
type: SiteQuality
SIO_000300: 1.247e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
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variant carriers: 0

GenotypeQuality
all individuals: 14860
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4316
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10174
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66488
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.222775357809582e-5
allele num: 16070
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

FS
type: SiteQuality
SIO_000300: 2.978e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.916e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.126559e6

MQRankSum
type: SiteQuality
SIO_000300: 1.21e-1

QD
type: SiteQuality
SIO_000300: 3.104e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e0

VQSLOD
type: SiteQuality
SIO_000300: -3.893e0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3532
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variant carriers: 0

GenotypeQuality
all individuals: 14854
bin: 9.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10142
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504800312998465e-5
allele num: 66454
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15936
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -9.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.618e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.71e-1

DP
type: SiteQuality
SIO_000300: 2.123296e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.448e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
SIO_000300: 5.42e0

GenotypeQuality
all individuals: 142
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 94
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 18112
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variant carriers: 0

GenotypeQuality
all individuals: 5050
bin: 7.75e1
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GenotypeQuality
all individuals: 161
bin: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10142
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15936
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504800312998465e-5
allele num: 66454
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 5.42e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.16e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

MQRankSum
type: SiteQuality
SIO_000300: -9.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.618e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.448e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.71e-1

DP
type: SiteQuality
SIO_000300: 2.123296e6

GenotypeQuality
all individuals: 175
bin: 3.25e1
variant carriers: 3

GenotypeQuality
all individuals: 7095
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4307
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5046
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3454
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3526
bin: 7.25e1
variant carriers: 1

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 7
allele frequency: 1.060284762193275e-3
allele num: 6602
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160362032954282e-4
allele num: 8618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 33
allele frequency: 4.968083825123449e-4
allele num: 66424
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 5.924170616113745e-4
allele num: 10128
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15924
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.955e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.33e-1

QD
type: SiteQuality
SIO_000300: 1.84e0

VQSLOD
type: SiteQuality
SIO_000300: -1.125e1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.784e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.98e-1

FS
type: SiteQuality
SIO_000300: 4.7769e1

DP
type: SiteQuality
SIO_000300: 2.123969e6

GenotypeQuality
all individuals: 197
bin: 5.25e1
variant carriers: 28

GenotypeQuality
all individuals: 1364
bin: 2.25e1
variant carriers: 13

GenotypeQuality
all individuals: 157
bin: 4.75e1
variant carriers: 31

GenotypeQuality
all individuals: 3429
bin: 7.25e1
variant carriers: 28

GenotypeQuality
all individuals: 4187
bin: 8.25e1
variant carriers: 35

GenotypeQuality
all individuals: 4892
bin: 7.75e1
variant carriers: 31

GenotypeQuality
all individuals: 6936
bin: 6.75e1
variant carriers: 35

GenotypeQuality
all individuals: 159
bin: 5.75e1
variant carriers: 16

South Asian
type: Population
allele count: 8
allele frequency: 5.08646998982706e-4
allele num: 15728
num of homozygotes: 0

African
type: Population
allele count: 197
allele frequency: 2.153947080691012e-2
allele num: 9146
num of homozygotes: 0

Latino
type: Population
allele count: 30
allele frequency: 2.620087336244541e-3
allele num: 11450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 784
allele frequency: 1.234490142974114e-2
allele num: 63508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 279
allele frequency: 4.719215155615697e-2
allele num: 5912
num of homozygotes: 0

East Asian
type: Population
allele count: 31
allele frequency: 3.654798396604575e-3
allele num: 8482
num of homozygotes: 0

Other
type: Population
allele count: 16
allele frequency: 1.941747572815534e-2
allele num: 824
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-2

FS
type: SiteQuality
SIO_000300: 1.77346e2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.58e-2

QD
type: SiteQuality
SIO_000300: 1.48e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.66e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.369e0

VQSLOD
type: SiteQuality
SIO_000300: -1.525e2

MQ
type: SiteQuality
SIO_000300: 5.946e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.98e0

DP
type: SiteQuality
SIO_000300: 2.164386e6

GenotypeQuality
all individuals: 7082
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 460
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variant carriers: 0

GenotypeQuality
all individuals: 4338
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variant carriers: 0

GenotypeQuality
all individuals: 84
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variant carriers: 0

GenotypeQuality
all individuals: 2290
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variant carriers: 0

GenotypeQuality
all individuals: 14277
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3521
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.007658202337767e-4
allele num: 9924
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14670
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65938
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

FS
type: SiteQuality
SIO_000300: 4.501e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

DP
type: SiteQuality
SIO_000300: 2.043171e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.95e0

QD
type: SiteQuality
SIO_000300: 1.72e1

GenotypeQuality
all individuals: 136
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15864
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variant carriers: 0

GenotypeQuality
all individuals: 41
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GenotypeQuality
all individuals: 56
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variant carriers: 0

GenotypeQuality
all individuals: 203
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GenotypeQuality
all individuals: 2288
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variant carriers: 0

GenotypeQuality
all individuals: 5045
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variant carriers: 0

GenotypeQuality
all individuals: 7069
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variant carriers: 0

GenotypeQuality
all individuals: 2876
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
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variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.912760956726116e-5
allele num: 14466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65840
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9912
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.039211e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.679999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.111e0

MQ
type: SiteQuality
SIO_000300: 5.883e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

QD
type: SiteQuality
SIO_000300: 1.328e1

VQSLOD
type: SiteQuality
SIO_000300: -3.136e-1

GenotypeQuality
all individuals: 62
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 63
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variant carriers: 0

GenotypeQuality
all individuals: 246
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GenotypeQuality
all individuals: 14272
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 64
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GenotypeQuality
all individuals: 535
bin: 2.75e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65702
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.103281716152862e-5
allele num: 14078
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.8e-1

DP
type: SiteQuality
SIO_000300: 2.030632e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 1.046e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.18e-1

GenotypeQuality
all individuals: 3495
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5019
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variant carriers: 0

GenotypeQuality
all individuals: 717
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variant carriers: 0

GenotypeQuality
all individuals: 68
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variant carriers: 0

GenotypeQuality
all individuals: 14700
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variant carriers: 0

GenotypeQuality
all individuals: 90
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GenotypeQuality
all individuals: 2281
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65554
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.267441860465116e-5
allele num: 13760
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9856
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 9.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.52e-1

FS
type: SiteQuality
SIO_000300: 7.006e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.036e0

DP
type: SiteQuality
SIO_000300: 2.017075e6

MQ
type: SiteQuality
SIO_000300: 3.521e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.6e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.317e0

GenotypeQuality
all individuals: 98
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variant carriers: 0

GenotypeQuality
all individuals: 14787
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GenotypeQuality
all individuals: 644
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variant carriers: 0

GenotypeQuality
all individuals: 375
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GenotypeQuality
all individuals: 3466
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GenotypeQuality
all individuals: 72
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GenotypeQuality
all individuals: 5020
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526111772426212e-5
allele num: 65526
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 2.031281738777168e-4
allele num: 9846
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.168497312456181e-4
allele num: 8558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13714
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.21e0

QD
type: SiteQuality
SIO_000300: 9.69e0

DP
type: SiteQuality
SIO_000300: 2.016936e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 2.118e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.64e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 4327
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variant carriers: 0

GenotypeQuality
all individuals: 14787
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
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GenotypeQuality
all individuals: 3616
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14272
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3466
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9846
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13714
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526111772426212e-5
allele num: 65526
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.69e0

DP
type: SiteQuality
SIO_000300: 2.016936e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.21e0

FS
type: SiteQuality
SIO_000300: 2.118e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.64e-1

GenotypeQuality
all individuals: 334
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4321
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5013
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14267
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3465
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.017501017501017e-4
allele num: 9828
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65494
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 6.09e0

DP
type: SiteQuality
SIO_000300: 2.014384e6

MQRankSum
type: SiteQuality
SIO_000300: -1.716e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.127e0

MQ
type: SiteQuality
SIO_000300: 5.893e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.431e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e0

VQSLOD
type: SiteQuality
SIO_000300: -3.728e0

GenotypeQuality
all individuals: 429
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3465
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4316
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2277
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5004
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9832
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13478
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.686587908269631e-5
allele num: 11512
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.746e0

FS
type: SiteQuality
SIO_000300: 3.648e0

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-1

DP
type: SiteQuality
SIO_000300: 2.012973e6

VQSLOD
type: SiteQuality
SIO_000300: -1.331e0

QD
type: SiteQuality
SIO_000300: 7.0e-1

MQ
type: SiteQuality
SIO_000300: 3.414e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.621e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e0

GenotypeQuality
all individuals: 97
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4887
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3455
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3384
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4276
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1252
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9682
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64966
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.103727714748784e-5
allele num: 12340
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

DP
type: SiteQuality
SIO_000300: 1.97162e6

QD
type: SiteQuality
SIO_000300: 1.172e1

MQRankSum
type: SiteQuality
SIO_000300: 4.51e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-2

GenotypeQuality
all individuals: 547
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11288
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2257
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14244
bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12232
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.034340091021928e-4
allele num: 9668
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64956
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.927e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.45e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.37e-1

FS
type: SiteQuality
SIO_000300: 1.976e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.64e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.05e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.6e-1

QD
type: SiteQuality
SIO_000300: 1.305e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

DP
type: SiteQuality
SIO_000300: 1.966814e6

GenotypeQuality
all individuals: 3290
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1371
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3374
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4161
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 760
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 591
allele frequency: 9.123186168570547e-3
allele num: 64780
num of homozygotes: 2

African
type: Population
allele count: 12
allele frequency: 1.244555071561917e-3
allele num: 9642
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 196
allele frequency: 2.977818292312367e-2
allele num: 6582
num of homozygotes: 7

Other
type: Population
allele count: 8
allele frequency: 9.478672985781991e-3
allele num: 844
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8478
num of homozygotes: 0

Latino
type: Population
allele count: 17
allele frequency: 1.48186889818689e-3
allele num: 11472
num of homozygotes: 0

South Asian
type: Population
allele count: 15
allele frequency: 1.252714214130616e-3
allele num: 11974
num of homozygotes: 1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.960609e6

VQSLOD
type: SiteQuality
SIO_000300: 6.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.07e-1

QD
type: SiteQuality
SIO_000300: 1.567e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.26e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.78e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.68e-1

GenotypeQuality
all individuals: 376
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9540
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6272
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1157
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 937
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3245
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503488092374308e-5
allele num: 66512
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16352
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.25e-1

FS
type: SiteQuality
SIO_000300: 3.01e0

MQRankSum
type: SiteQuality
SIO_000300: 9.23e-1

MQ
type: SiteQuality
SIO_000300: 5.911e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.54e0

QD
type: SiteQuality
SIO_000300: 1.429e1

DP
type: SiteQuality
SIO_000300: 1.872401e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.25e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.52e-1

GenotypeQuality
all individuals: 758
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 821
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2795
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9561
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3248
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1157
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503352476021528e-5
allele num: 66518
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16356
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.67e-1

FS
type: SiteQuality
SIO_000300: 1.278e0

DP
type: SiteQuality
SIO_000300: 1.872719e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.96e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.92e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.54e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.82e0

QD
type: SiteQuality
SIO_000300: 1.544e1

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

GenotypeQuality
all individuals: 3180
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2022
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 850
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504121292341014e-5
allele num: 66484
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.137981831573779e-5
allele num: 16292
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.877806e6

VQSLOD
type: SiteQuality
SIO_000300: 7.22e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.13e-1

FS
type: SiteQuality
SIO_000300: 4.531e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.601e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.86e-2

QD
type: SiteQuality
SIO_000300: 1.247e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.59e-1

GenotypeQuality
all individuals: 6254
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 32695
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2022
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 852
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2747
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.119202056051891e-5
allele num: 16342
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.654373431164318e-5
allele num: 10358
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.12e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.01e-1

DP
type: SiteQuality
SIO_000300: 1.880001e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.49e-2

QD
type: SiteQuality
SIO_000300: 1.335e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.45e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeQuality
all individuals: 2022
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1147
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32695
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.01e-1

QD
type: SiteQuality
SIO_000300: 1.335e1

MQRankSum
type: SiteQuality
SIO_000300: 2.45e-1

DP
type: SiteQuality
SIO_000300: 1.880001e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.49e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.12e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 79
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2032
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 860
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6254
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 39
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34116
bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16416
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66596
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.421e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.123e0

MQRankSum
type: SiteQuality
SIO_000300: -2.437e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.91e0

QD
type: SiteQuality
SIO_000300: 1.23e1

VQSLOD
type: SiteQuality
SIO_000300: -2.691e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.65e-2

DP
type: SiteQuality
SIO_000300: 1.89285e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.345e0

GenotypeQuality
all individuals: 54
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3186
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 34323
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9675
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2770
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501005673801447e-5
allele num: 66622
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.23e0

VQSLOD
type: SiteQuality
SIO_000300: 4.48e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

QD
type: SiteQuality
SIO_000300: 1.299e1

MQ
type: SiteQuality
SIO_000300: 5.948e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.409999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.895491e6

GenotypeQuality
all individuals: 34492
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1143
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9700
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6253
bin: 9.75e1
variant carriers: 1

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.071645415907711e-5
allele num: 16470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66652
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.89754e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.699e0

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

QD
type: SiteQuality
SIO_000300: 1.732e1

FS
type: SiteQuality
SIO_000300: 1.596e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.28e-2

GenotypeQuality
all individuals: 1144
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3191
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2028
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499925003749813e-5
allele num: 66670
num of homozygotes: 0

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.98e-1

QD
type: SiteQuality
SIO_000300: 2.06e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.511e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.6e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.49e-1

DP
type: SiteQuality
SIO_000300: 1.898866e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.85e-1

GenotypeQuality
all individuals: 9720
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1145
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2776
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 858
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3194
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2031
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34615
bin: 6.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499745043342632e-5
allele num: 66678
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.78e-1

MQ
type: SiteQuality
SIO_000300: 5.573e1

VQSLOD
type: SiteQuality
SIO_000300: 2.1e0

FS
type: SiteQuality
SIO_000300: 2.349e0

QD
type: SiteQuality
SIO_000300: 1.137e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.43e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.908e0

DP
type: SiteQuality
SIO_000300: 1.899262e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e-1

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

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

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

GenotypeQuality
all individuals: 3189
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2772
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6309
bin: 9.75e1
variant carriers: 154

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

GenotypeQuality
all individuals: 1139
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 147
allele frequency: 1.412918108419839e-2
allele num: 10404
num of homozygotes: 1

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

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

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

Latino
type: Population
allele count: 7
allele frequency: 6.045949214026602e-4
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499655079331754e-5
allele num: 66682
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.32e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 1.5e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.26e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.32e-1

FS
type: SiteQuality
SIO_000300: 6.860000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.906722e6

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

GenotypeQuality
all individuals: 852
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9727
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 2777
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2022
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6186
bin: 9.75e1
variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.898581e6

FS
type: SiteQuality
SIO_000300: 5.463e0

MQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.204e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.62e-1

MQ
type: SiteQuality
SIO_000300: 5.941e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.257e0

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

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

GenotypeQuality
all individuals: 6184
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variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 9730
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variant carriers: 0

GenotypeQuality
all individuals: 1143
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -3.875e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 7.23e-1

DP
type: SiteQuality
SIO_000300: 1.899183e6

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

QD
type: SiteQuality
SIO_000300: 1.473e1

MQ
type: SiteQuality
SIO_000300: 5.811e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.908e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.295e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 9731
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3197
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2021
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 34784
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.239e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.03e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

QD
type: SiteQuality
SIO_000300: 1.295e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.67e-1

DP
type: SiteQuality
SIO_000300: 1.899251e6

FS
type: SiteQuality
SIO_000300: 1.846e0

VQSLOD
type: SiteQuality
SIO_000300: 9.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

GenotypeQuality
all individuals: 9732
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34787
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3197
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6182
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variant carriers: 3

GenotypeQuality
all individuals: 853
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variant carriers: 0

GenotypeQuality
all individuals: 2021
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variant carriers: 0

GenotypeQuality
all individuals: 1143
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996793431028799e-5
allele num: 66738
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.56e0

MQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.429e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.899446e6

MQ
type: SiteQuality
SIO_000300: 5.971e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.79e-1

QD
type: SiteQuality
SIO_000300: 1.22e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e-1

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 3197
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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: 6181
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variant carriers: 1

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 34787
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.48e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.432e0

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

MQ
type: SiteQuality
SIO_000300: 5.254e1

FS
type: SiteQuality
SIO_000300: 2.666e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

QD
type: SiteQuality
SIO_000300: 8.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.91e-1

DP
type: SiteQuality
SIO_000300: 1.899537e6

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

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

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

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

GenotypeQuality
all individuals: 9732
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3197
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 853
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.91e-1

QD
type: SiteQuality
SIO_000300: 8.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.899537e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 5.254e1

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

FS
type: SiteQuality
SIO_000300: 2.666e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.48e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.432e0

GenotypeQuality
all individuals: 3195
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2778
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1143
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9728
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 7
allele frequency: 6.046993780234969e-4
allele num: 11576
num of homozygotes: 0

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

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

African
type: Population
allele count: 47
allele frequency: 4.516625024024602e-3
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996883241428914e-5
allele num: 66736
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.978e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.59e-1

QD
type: SiteQuality
SIO_000300: 1.448e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.9042e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.8e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

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

GenotypeQuality
all individuals: 9730
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2779
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 854
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6153
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 3198
bin: 7.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.13e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.919999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.7e-3

MQ
type: SiteQuality
SIO_000300: 5.94e1

DP
type: SiteQuality
SIO_000300: 1.898875e6

QD
type: SiteQuality
SIO_000300: 9.75e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-2

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

GenotypeQuality
all individuals: 1145
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2778
bin: 7.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 9731
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34817
bin: 6.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996793431028799e-5
allele num: 66738
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -3.26e-1

QD
type: SiteQuality
SIO_000300: 1.26e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.31e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.57e0

DP
type: SiteQuality
SIO_000300: 1.898852e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.51e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.24e-1

GenotypeQuality
all individuals: 5
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6154
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9732
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 854
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.898641e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.8e-2

FS
type: SiteQuality
SIO_000300: 1.768e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.52e-1

QD
type: SiteQuality
SIO_000300: 1.229e1

GenotypeQuality
all individuals: 2778
bin: 7.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 3198
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6154
bin: 9.75e1
variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.229e1

MQRankSum
type: SiteQuality
SIO_000300: 7.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.89e-1

FS
type: SiteQuality
SIO_000300: 1.768e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.8e-2

DP
type: SiteQuality
SIO_000300: 1.898641e6

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

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

GenotypeQuality
all individuals: 6152
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 34820
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 854
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3198
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1145
bin: 9.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.62e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

FS
type: SiteQuality
SIO_000300: 5.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.07e-2

MQRankSum
type: SiteQuality
SIO_000300: -6.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-1

DP
type: SiteQuality
SIO_000300: 1.898583e6

QD
type: SiteQuality
SIO_000300: 1.216e1

GenotypeQuality
all individuals: 34822
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9732
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2778
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 854
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.934e1

FS
type: SiteQuality
SIO_000300: 1.993e0

QD
type: SiteQuality
SIO_000300: 9.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.478e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.95e-1

DP
type: SiteQuality
SIO_000300: 1.898606e6

MQRankSum
type: SiteQuality
SIO_000300: 1.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.89e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.18e-2

VQSLOD
type: SiteQuality
SIO_000300: -8.258e-1

GenotypeQuality
all individuals: 5
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1145
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9732
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3198
bin: 7.75e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.836e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.99e-1

DP
type: SiteQuality
SIO_000300: 1.898514e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.06e-2

MQ
type: SiteQuality
SIO_000300: 5.984e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.6e0

QD
type: SiteQuality
SIO_000300: 1.031e1

MQRankSum
type: SiteQuality
SIO_000300: 2.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.29e-1

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

GenotypeQuality
all individuals: 2778
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 854
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1145
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.32e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.09e-1

DP
type: SiteQuality
SIO_000300: 1.898585e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.24e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.89e-1

FS
type: SiteQuality
SIO_000300: 1.028e0

QD
type: SiteQuality
SIO_000300: 1.234e1

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

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34822
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6153
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2777
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 854
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
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European (Finnish)
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Other
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East Asian
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Latino
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African
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FS
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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MQ
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ReadPosRankSum
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ClippingRankSum
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DP
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QD
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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European (Finnish)
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South Asian
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European (Non-Finnish)
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Latino
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East Asian
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FS
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MQ
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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DP
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QD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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African
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East Asian
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Other
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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DP
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MQ
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ReadPosRankSum
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FS
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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Latino
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European (Non-Finnish)
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European (Finnish)
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African
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Other
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DP
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ClippingRankSum
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QD
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MQRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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MQ
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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South Asian
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European (Finnish)
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Other
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East Asian
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European (Non-Finnish)
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MQRankSum
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ReadPosRankSum
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QD
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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FS
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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Other
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East Asian
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South Asian
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African
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QD
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MQ
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MQRankSum
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VQSLOD
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ReadPosRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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Latino
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South Asian
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European (Finnish)
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East Asian
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Other
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MQRankSum
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QD
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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MQ
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BaseQRankSum
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DP
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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European (Non-Finnish)
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Latino
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East Asian
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South Asian
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MQ
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DP
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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African
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European (Non-Finnish)
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South Asian
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European (Finnish)
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MQRankSum
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InbreedingCoeff
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MQ
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FS
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DP
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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QD
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ClippingRankSum
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