http://identifiers.org/exac.variant/7-48412128-AAAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48412128
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48412125
    reference: chr 7
allele count: 2
allele frequency: 2.734631371691096e-5
allele num: 73136
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1617+40_1617+42delCAA
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11133+40_11133+42delCAA
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12919
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16957
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4845
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9226
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4953
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6534
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2802
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5137
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3044
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5152
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7034
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2732
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15976
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3749
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7282
  num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: AAAC
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/7-48412130-A-AC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48412130
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48412131
    reference: chr 7
allele count: 16
allele frequency: 2.125285585250518e-4
allele num: 75284
alternate allele: AC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11133+37dupC
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1617+37dupC
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4375
  bin: 2.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3518
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18700
  bin: 1.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12645
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9929
  bin: 7.5e0
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5136
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4385
  bin: 6.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 5436
  bin: 2.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5273
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 6967
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 4.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 5.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2479
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 18386
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 2588
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2643
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 1.393534002229654e-4
  allele num: 7176
  num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/7-48412130-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48412130
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48412130
    reference: chr 7
allele count: 184
allele frequency: 2.444078423038096e-3
allele num: 75284
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1617+36A>C
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11133+36A>C
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12645
  bin: 1.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18700
  bin: 1.25e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3518
  bin: 2.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 9929
  bin: 7.5e0
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4375
  bin: 2.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5136
  bin: 3.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 7.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 2479
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 4.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 18386
  bin: 2.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 9.75e1
  variant carriers: 113
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 4.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 5436
  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 2588
  bin: 3.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 5273
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 2643
  bin: 1.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 5.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 430
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  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 6.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 8.25e1
  variant carriers: 6
num of homozygotes: 0
population: Other
  type: Population
  allele count: 1
  allele frequency: 1.748251748251748e-3
  allele num: 572
  num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/7-48412131-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48412131
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48412131
    reference: chr 7
allele count: 7
allele frequency: 1.10232748574848e-4
allele num: 63502
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11133+37C>A
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1617+37C>A
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4540
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18848
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13030
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7606
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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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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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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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 291
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 1.714089818306479e-4
  allele num: 5834
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/7-48412134-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48412134
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48412134
    reference: chr 7
allele count: 4
allele frequency: 5.355756098867258e-5
allele num: 74686
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11133+40C>A
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1617+40C>A
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12036
  bin: 1.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 400
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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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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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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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: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7542
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

7-48412138-ATTGC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48412138
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48412134
    reference: chr 7
allele count: 2
allele frequency: 2.833342777809259e-5
allele num: 70588
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1617+45_1617+48delTTGC
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11133+45_11133+48delTTGC
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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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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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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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 536
  num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: ATTGC
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

7-48413895-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48413895
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48413895
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 62292
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1618-49C>T
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11134-49C>T
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 14367
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 9.75e1
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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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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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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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4136
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP

7-48413896-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48413896
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48413896
    reference: chr 7
allele count: 1
allele frequency: 1.60590974787217e-5
allele num: 62270
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1618-48C>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11134-48C>G
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 532
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

7-48413908-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48413908
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48413908
    reference: chr 7
allele count: 1
allele frequency: 1.566906925728612e-5
allele num: 63820
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1618-36C>T
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11134-36C>T
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 625
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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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: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 346
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22555
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4332
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum

7-48413912-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48413912
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48413912
    reference: chr 7
allele count: 2
allele frequency: 3.108196313679172e-5
allele num: 64346
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1618-32C>T
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11134-32C>T
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13089
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 382
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genotype depth: GenotypeDepth
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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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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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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 702
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4562
  num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

7-48413913-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48413913
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48413913
    reference: chr 7
allele count: 2
allele frequency: 3.097413659594239e-5
allele num: 64570
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1618-31G>A
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11134-31G>A
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
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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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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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4016
  num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

7-48413914-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48413914
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48413914
    reference: chr 7
allele count: 1
allele frequency: 1.535673700052213e-5
allele num: 65118
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11134-30T>C
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1618-30T>C
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4040
  num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

7-48413918-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48413918
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48413918
    reference: chr 7
allele count: 2
allele frequency: 3.00724746639401e-5
allele num: 66506
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11134-26G>A
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1618-26G>A
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2097
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4652
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ

7-48413923-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48413923
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48413923
    reference: chr 7
allele count: 1
allele frequency: 1.466017709493931e-5
allele num: 68212
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1618-21T>C
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11134-21T>C
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24449
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
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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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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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: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7092
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 576
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

7-48413926-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48413926
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48413926
    reference: chr 7
allele count: 5
allele frequency: 7.205026226295464e-5
allele num: 69396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1618-18C>T
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11134-18C>T
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9289
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
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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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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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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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: 9.75e1
  variant carriers: 5
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 578
  num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

7-48413927-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48413927
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48413927
    reference: chr 7
allele count: 2
allele frequency: 2.860821055642969e-5
allele num: 69910
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11134-17C>T
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1618-17C>T
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
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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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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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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num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 586
  num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

7-48413928-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48413928
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48413928
    reference: chr 7
allele count: 2
allele frequency: 2.836638016622699e-5
allele num: 70506
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1618-16A>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11134-16A>G
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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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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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5084
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

7-48413932-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48413932
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48413932
    reference: chr 7
allele count: 2
allele frequency: 2.757251571633396e-5
allele num: 72536
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11134-12A>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1618-12A>G
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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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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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 7092
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 5.063547521393489e-5
  allele num: 39498
  num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

7-48413934-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48413934
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48413934
    reference: chr 7
allele count: 1
allele frequency: 1.363958753887283e-5
allele num: 73316
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1618-10C>T
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11134-10C>T
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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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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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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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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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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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 608
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

7-48413938-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48413938
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48413938
    reference: chr 7
allele count: 1
allele frequency: 1.328338779522329e-5
allele num: 75282
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1618-6G>A
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11134-6G>A
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 381
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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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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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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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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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: c.11134-6G>A
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5476
  num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

7-48413945-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48413945
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48413945
    reference: chr 7
allele count: 1
allele frequency: 1.266143327424664e-5
allele num: 78980
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11135G>A
  hgvsp: ENSP00000411096.1:p.Cys3712Tyr
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1619G>A
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 21249
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Cys3712Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

7-48413946-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48413946
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48413946
    reference: chr 7
allele count: 25
allele frequency: 3.141334941696824e-4
allele num: 79584
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11136C>G
  hgvsp: ENSP00000411096.1:p.Cys3712Trp
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1620C>G
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2639
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 10
genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19135
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6085
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 373
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 7102
  bin: 9.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1968
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1464
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19474
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 189
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 451
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21094
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Cys3712Trp
num of homozygotes: 1
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

7-48413947-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48413947
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48413947
    reference: chr 7
allele count: 6
allele frequency: 7.496439191384092e-5
allele num: 80038
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11137C>T
  hgvsp: ENSP00000411096.1:p.Leu3713Phe
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1621C>T
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 950
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
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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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 647
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2016
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu3713Phe
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5886
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

7-48413950-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48413950
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48413950
    reference: chr 7
allele count: 2
allele frequency: 2.45784790837143e-5
allele num: 81372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1624C>T
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11140C>T
  hgvsp: ENSP00000411096.1:p.Leu3714Phe
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5692
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 4.25e1
  variant carriers: 0
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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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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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu3714Phe
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11390
  num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum

7-48413954-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48413954
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48413954
    reference: chr 7
allele count: 1
allele frequency: 1.207088020858481e-5
allele num: 82844
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1628C>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11144C>G
  hgvsp: ENSP00000411096.1:p.Ser3715Trp
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18205
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21137
  bin: 2.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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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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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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genotype quality: GenotypeQuality
  all individuals: 701
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser3715Trp
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7098
  num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD

7-48413954-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48413954
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48413954
    reference: chr 7
allele count: 49
allele frequency: 5.914731302206557e-4
allele num: 82844
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11144C>T
  hgvsp: ENSP00000411096.1:p.Ser3715Leu
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1628C>T
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
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  variant carriers: 6
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 5
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1733
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7122
  bin: 9.75e1
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19790
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1525
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20966
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser3715Leu
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 2.190196679661834e-5
  allele num: 45658
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

7-48413955-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48413955
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48413955
    reference: chr 7
allele count: 14
allele frequency: 1.677048394825108e-4
allele num: 83480
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11145G>A
  hgvsp: ENST00000435803.1:c.11145G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1629G>A
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5328
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 950
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genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 17949
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1312
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genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 233
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.75e1
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genotype depth: GenotypeDepth
  all individuals: 21499
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 21907
  bin: 6.25e1
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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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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 375
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 19630
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 746
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 7089
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 452
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genotype quality: GenotypeQuality
  all individuals: 870
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1524
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser3715Ser
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 7
  allele frequency: 1.521474526169362e-4
  allele num: 46008
  num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/7-48413961-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48413961
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48413961
    reference: chr 7
allele count: 1
allele frequency: 1.174480879451283e-5
allele num: 85144
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1635C>A
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11151C>A
  hgvsp: ENST00000435803.1:c.11151C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5305
  bin: 1.25e1
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genotype depth: GenotypeDepth
  all individuals: 335
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21915
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 374
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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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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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genotype quality: GenotypeQuality
  all individuals: 21771
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7088
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Thr3717Thr
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7178
  num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

7-48413961-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48413961
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48413961
    reference: chr 7
allele count: 11
allele frequency: 1.291928967396411e-4
allele num: 85144
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1635C>T
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11151C>T
  hgvsp: ENST00000435803.1:c.11151C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1696
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 242
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21915
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 5.75e1
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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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: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
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  variant carriers: 0
hgvs: p.Thr3717Thr
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 654
  num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD

7-48413962-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48413962
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48413962
    reference: chr 7
allele count: 2
allele frequency: 2.339892832908253e-5
allele num: 85474
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11152G>A
  hgvsp: ENSP00000411096.1:p.Ala3718Thr
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1636G>A
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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  variant carriers: 0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
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genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22470
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala3718Thr
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5026
  num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

7-48413966-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48413966
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48413966
    reference: chr 7
allele count: 1
allele frequency: 1.156523951611038e-5
allele num: 86466
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1640T>C
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11156T>C
  hgvsp: ENSP00000411096.1:p.Phe3719Ser
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22173
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16648
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1632
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19093
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22910
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7077
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Phe3719Ser
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6454
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-48413969-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48413969
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48413969
    reference: chr 7
allele count: 4
allele frequency: 4.626309823968911e-5
allele num: 86462
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11159G>A
  hgvsp: ENSP00000411096.1:p.Gly3720Glu
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1643G>A
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16603
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5665
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1484
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7080
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 19302
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1626
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 458
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly3720Glu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5068
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

7-48413974-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48413974
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48413974
    reference: chr 7
allele count: 1
allele frequency: 1.152206475400392e-5
allele num: 86790
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1648G>C
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11164G>C
  hgvsp: ENSP00000411096.1:p.Gly3722Arg
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1882
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 646
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly3722Arg
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7348
  num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

7-48413984-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48413984
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48413984
    reference: chr 7
allele count: 1
allele frequency: 1.161359254871902e-5
allele num: 86106
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1658T>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11174T>G
  hgvsp: ENSP00000411096.1:p.Phe3725Cys
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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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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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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 439
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Phe3725Cys
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 656
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

7-48413990-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48413990
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48413990
    reference: chr 7
allele count: 2
allele frequency: 2.351392024078254e-5
allele num: 85056
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11180C>T
  hgvsp: ENSP00000411096.1:p.Thr3727Ile
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1664C>T
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17057
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18519
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7927
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21899
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19853
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1493
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1651
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7076
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr3727Ile
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5014
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

7-48414007-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48414007
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48414007
    reference: chr 7
allele count: 6
allele frequency: 7.362866609399926e-5
allele num: 81490
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1681G>A
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11197G>A
  hgvsp: ENSP00000411096.1:p.Glu3733Lys
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3441
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11977
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1632
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26570
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15163
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2081
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7080
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu3733Lys
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6496
  num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

7-48414026-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48414026
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48414026
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 75880
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11203+13A>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1687+13A>G
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 5603
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17880
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19388
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2820
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3051
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31040
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3106
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7038
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2349
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7074
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 41734
  num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

7-48414026-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48414026
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48414026
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 75880
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11203+13A>T
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1687+13A>T
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2820
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17880
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19388
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5603
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2349
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3051
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7038
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31040
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3106
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7074
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 41734
  num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

7-48414030-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48414030
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48414031
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 74440
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1687+18dupT
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11203+18dupT
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3381
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4559
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18505
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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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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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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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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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: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 40900
  num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

7-48414031-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48414031
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48414031
    reference: chr 7
allele count: 1
allele frequency: 1.348363087212124e-5
allele num: 74164
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1687+18T>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11203+18T>G
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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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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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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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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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 584
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/7-48414043-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48414043
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48414043
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 67738
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1687+30C>A
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11203+30C>A
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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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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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6036
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

7-48414055-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48414055
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48414055
    reference: chr 7
allele count: 4
allele frequency: 6.977880120019538e-5
allele num: 57324
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11203+42C>T
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1687+42C>T
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3790
  num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

7-48414056-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48414056
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48414056
    reference: chr 7
allele count: 2
allele frequency: 3.555681979803727e-5
allele num: 56248
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1687+43G>A
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11203+43G>A
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23694
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5386
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7074
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 17700
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10432
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3043
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3000
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3760
  num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: G
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

7-48415998-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48415998
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48415998
    reference: chr 7
allele count: 1
allele frequency: 8.317391665973551e-6
allele num: 120230
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11204-40G>C
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1688-40G>C
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8142
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2041
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36114
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6637
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8805
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2163
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8592
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-48416007-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48416007
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48416007
    reference: chr 7
allele count: 2
allele frequency: 1.66220641279234e-5
allele num: 120322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1688-31G>A
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11204-31G>A
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14365
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25631
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2060
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8878
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6629
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 447
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8598
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

7-48416015-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48416015
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48416015
    reference: chr 7
allele count: 1
allele frequency: 8.302200083022e-6
allele num: 120450
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1688-23T>C
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11204-23T>C
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14445
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25807
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37603
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2067
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6628
  bin: 9.75e1
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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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genotype quality: GenotypeQuality
  all individuals: 627
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 8944
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 449
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

7-48416016-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48416016
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48416016
    reference: chr 7
allele count: 5
allele frequency: 4.151031116129247e-5
allele num: 120452
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11204-22C>T
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1688-22C>T
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25834
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 6628
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37631
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9800
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP

7-48416018-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48416018
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48416018
    reference: chr 7
allele count: 1
allele frequency: 8.29985724245543e-6
allele num: 120484
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11204-20G>T
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1688-20G>T
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3280
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14482
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6625
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8954
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2063
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37729
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

7-48416035-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48416035
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48416035
    reference: chr 7
allele count: 1
allele frequency: 8.288300235387727e-6
allele num: 120652
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11204-3T>A
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1688-3T>A
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2157
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6624
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2074
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9020
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38027
  bin: 6.25e1
  variant carriers: 0
hgvs: c.11204-3T>A
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9800
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ

7-48416036-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48416036
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48416036
    reference: chr 7
allele count: 2
allele frequency: 1.657660047077545e-5
allele num: 120652
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11204-2A>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1688-2A>G
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8838
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26197
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2075
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6623
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 38033
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9021
  bin: 6.75e1
  variant carriers: 0
hgvs: c.11204-2A>G
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8600
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

7-48416037-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48416037
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48416037
    reference: chr 7
allele count: 1
allele frequency: 8.288025460814215e-6
allele num: 120656
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1688-1G>C
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11204-1G>C
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8828
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14524
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2077
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6622
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38025
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9027
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2156
  bin: 7.75e1
  variant carriers: 0
hgvs: c.11204-1G>C
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9800
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

7-48416037-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48416037
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48416037
    reference: chr 7
allele count: 1
allele frequency: 8.288025460814215e-6
allele num: 120656
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11204-1G>T
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1688-1G>T
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8828
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14524
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9027
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2156
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38025
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2077
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6622
  bin: 9.75e1
  variant carriers: 1
hgvs: c.11204-1G>T
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66666
  num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

7-48416041-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48416041
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48416041
    reference: chr 7
allele count: 1
allele frequency: 8.286651861182008e-6
allele num: 120676
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1691T>C
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3T>C
  hgvsp: ENSP00000396789.1:p.Ile2Thr
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11207T>C
  hgvsp: ENSP00000411096.1:p.Ile3736Thr
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8825
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9040
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2078
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6620
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 2155
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38059
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile3736Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

7-48416045-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48416045
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48416045
    reference: chr 7
allele count: 3
allele frequency: 2.485789569626966e-5
allele num: 120686
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11211A>G
  hgvsp: ENST00000435803.1:c.11211A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.7A>G
  hgvsp: ENST00000453246.1:c.7A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1695A>G
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8824
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6619
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9042
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 2155
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2078
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln3737Gln
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

7-48416052-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48416052
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48416052
    reference: chr 7
allele count: 1
allele frequency: 8.285004142502071e-6
allele num: 120700
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.14A>G
  hgvsp: ENSP00000396789.1:p.Asn6Asp
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1702A>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11218A>G
  hgvsp: ENSP00000411096.1:p.Asn3740Asp
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14537
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8829
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2154
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9038
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6619
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38108
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2076
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asn3740Asp
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

7-48416056-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48416056
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48416056
    reference: chr 7
allele count: 2
allele frequency: 1.656808655168415e-5
allele num: 120714
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1706T>C
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11222T>C
  hgvsp: ENSP00000411096.1:p.Met3741Thr
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.18T>C
  hgvsp: ENSP00000396789.1:p.Met7Thr
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14537
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8838
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26248
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9036
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38120
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2156
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2079
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Met3741Thr
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum

7-48416062-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48416062
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48416062
    reference: chr 7
allele count: 1
allele frequency: 8.28363154406892e-6
allele num: 120720
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.24A>G
  hgvsp: ENSP00000396789.1:p.Gln9Arg
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1712A>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11228A>G
  hgvsp: ENSP00000411096.1:p.Gln3743Arg
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14539
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26256
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8838
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38138
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2156
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6617
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9035
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2082
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln3743Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

7-48416063-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48416063
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48416063
    reference: chr 7
allele count: 6
allele frequency: 4.970014247374176e-5
allele num: 120724
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.25G>T
  hgvsp: ENSP00000396789.1:p.Gln9His
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1713G>T
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11229G>T
  hgvsp: ENSP00000411096.1:p.Gln3743His
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8836
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14541
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9034
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38137
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6619
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2155
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln3743His
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

7-48416064-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48416064
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48416064
    reference: chr 7
allele count: 2
allele frequency: 1.656698861847882e-5
allele num: 120722
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11230G>A
  hgvsp: ENSP00000411096.1:p.Ala3744Thr
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1714G>A
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.26G>A
  hgvsp: ENSP00000396789.1:p.Ala10Thr
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8838
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14541
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9037
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1210
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6615
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2155
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38145
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala3744Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

7-48416066-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48416066
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48416066
    reference: chr 7
allele count: 10
allele frequency: 8.283906027370025e-5
allele num: 120716
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.28T>C
  hgvsp: ENST00000453246.1:c.28T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11232T>C
  hgvsp: ENST00000435803.1:c.11232T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1716T>C
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8837
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38151
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6615
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9036
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2082
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2155
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala3744Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

7-48416078-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48416078
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48416078
    reference: chr 7
allele count: 4
allele frequency: 3.313452617627568e-5
allele num: 120720
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11244G>A
  hgvsp: ENST00000435803.1:c.11244G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.40G>A
  hgvsp: ENST00000453246.1:c.40G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1728G>A
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14551
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2154
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38149
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2082
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9039
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 6607
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly3748Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

7-48416079-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48416079
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48416079
    reference: chr 7
allele count: 1
allele frequency: 8.28363154406892e-6
allele num: 120720
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1729G>C
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11245G>C
  hgvsp: ENSP00000411096.1:p.Gly3749Arg
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.41G>C
  hgvsp: ENSP00000396789.1:p.Gly15Arg
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8817
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38150
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6604
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2082
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2153
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly3749Arg
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

7-48416080-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48416080
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48416080
    reference: chr 7
allele count: 4
allele frequency: 3.313617310336829e-5
allele num: 120714
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11246G>T
  hgvsp: ENSP00000411096.1:p.Gly3749Val
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.42G>T
  hgvsp: ENSP00000396789.1:p.Gly15Val
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1730G>T
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8814
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2153
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6603
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 38144
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9036
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly3749Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum

7-48416087-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48416087
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48416087
    reference: chr 7
allele count: 1
allele frequency: 8.283768783445716e-6
allele num: 120718
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11253A>G
  hgvsp: ENST00000435803.1:c.11253A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.49A>G
  hgvsp: ENST00000453246.1:c.49A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1737A>G
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14551
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38158
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2080
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2152
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6600
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9038
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr3751Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

7-48416105-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48416105
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48416105
    reference: chr 7
allele count: 1
allele frequency: 8.286102548805144e-6
allele num: 120684
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.67G>C
  hgvsp: ENSP00000396789.1:p.Trp23Cys
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11271G>C
  hgvsp: ENSP00000411096.1:p.Trp3757Cys
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1755G>C
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8770
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26305
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6592
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2146
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 38132
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8996
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 436
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2070
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Trp3757Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

7-48416110-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48416110
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48416110
    reference: chr 7
allele count: 1
allele frequency: 8.287201246395068e-6
allele num: 120668
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11276T>C
  hgvsp: ENSP00000411096.1:p.Ile3759Thr
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.72T>C
  hgvsp: ENSP00000396789.1:p.Ile25Thr
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1760T>C
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26322
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2056
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
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genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 22
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6591
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8960
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2132
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile3759Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

7-48416124-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48416124
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48416124
    reference: chr 7
allele count: 2
allele frequency: 1.657715005636231e-5
allele num: 120648
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11290A>G
  hgvsp: ENSP00000411096.1:p.Ser3764Gly
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1774A>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.86A>G
  hgvsp: ENSP00000396789.1:p.Ser30Gly
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3252
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14485
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8812
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26305
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38219
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2042
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 8921
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 89
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2121
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser3764Gly
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

7-48416127-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48416127
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48416127
    reference: chr 7
allele count: 19
allele frequency: 1.574881469447299e-4
allele num: 120644
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1777C>T
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11293C>T
  hgvsp: ENSP00000411096.1:p.Leu3765Phe
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.89C>T
  hgvsp: ENSP00000396789.1:p.Leu31Phe
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8817
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26299
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2113
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8912
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6581
  bin: 9.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 2038
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38215
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu3765Phe
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

7-48416131-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48416131
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48416132
    reference: chr 7
allele count: 2
allele frequency: 1.657962364254331e-5
allele num: 120630
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.99dupT
  hgvsp: ENSP00000396789.1:p.Leu34PhefsTer46
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11303dupT
  hgvsp: ENSP00000411096.1:p.Leu3768PhefsTer46
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1787dupT
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26309
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8825
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8912
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6565
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 38244
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 2027
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2112
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu3768PhefsTer46
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

7-48416138-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48416138
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48416138
    reference: chr 7
allele count: 1
allele frequency: 8.290911502810618e-6
allele num: 120614
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11304G>A
  hgvsp: ENST00000435803.1:c.11304G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1788G>A
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.100G>A
  hgvsp: ENST00000453246.1:c.100G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8824
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8902
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
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genotype quality: GenotypeQuality
  all individuals: 2098
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38212
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6561
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2022
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu3768Leu
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD

7-48416150-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48416150
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48416150
    reference: chr 7
allele count: 1
allele frequency: 8.299719469481931e-6
allele num: 120486
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11316C>T
  hgvsp: ENST00000435803.1:c.11316C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.112C>T
  hgvsp: ENST00000453246.1:c.112C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1800C>T
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6558
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1999
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 89
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genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 83
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genotype quality: GenotypeQuality
  all individuals: 6
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 38152
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genotype quality: GenotypeQuality
  all individuals: 250
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Tyr3772Tyr
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

7-48416156-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48416156
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48416156
    reference: chr 7
allele count: 1
allele frequency: 8.300821781356355e-6
allele num: 120470
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11322C>T
  hgvsp: ENST00000435803.1:c.11322C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.118C>T
  hgvsp: ENST00000453246.1:c.118C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1806C>T
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8858
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26233
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2057
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8817
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1976
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 38240
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6554
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser3774Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

7-48416173-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48416173
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48416173
    reference: chr 7
allele count: 1
allele frequency: 8.332500083325001e-6
allele num: 120012
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.131+4A>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11335+4A>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1819+4A>G
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.75e1
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genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 136
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1908
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 596
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 6541
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1961
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 8.25e1
  variant carriers: 0
hgvs: c.11335+4A>G
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-48416177-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48416177
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48416177
    reference: chr 7
allele count: 1
allele frequency: 8.355614973262032e-6
allele num: 119680
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11335+8T>C
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1819+8T>C
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.131+8T>C
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8295
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25539
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6536
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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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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genotype quality: GenotypeQuality
  all individuals: 592
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 44
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1926
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  variant carriers: 0
hgvs: c.11335+8T>C
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

7-48416180-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48416180
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48416180
    reference: chr 7
allele count: 1
allele frequency: 8.358688020328329e-6
allele num: 119636
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11335+11T>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1819+11T>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.131+11T>G
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8264
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 234
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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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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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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff

7-48416186-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48416186
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48416186
    reference: chr 7
allele count: 1
allele frequency: 8.397433744247758e-6
allele num: 119084
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11335+17T>C
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1819+17T>C
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.131+17T>C
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD

7-48416188-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48416188
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48416188
    reference: chr 7
allele count: 2
allele frequency: 1.682340472064736e-5
allele num: 118882
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.131+19G>A
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.11335+19G>A
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl transcript: ENST00000484268
  gene symbol: ABCA13
  hgvsc: ENST00000484268.1:n.1819+19G>A
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23912
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13271
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7592
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3540
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8106
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: G

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5012
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7754
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5136
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.426940639269406e-4
allele num: 7008
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.477086945751796e-5
allele num: 40370
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.84e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.18e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.37e0

MQ
type: SiteQuality
SIO_000300: 5.788e1

QD
type: SiteQuality
SIO_000300: 8.289999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.76e-1

DP
type: SiteQuality
SIO_000300: 1.056274e6

South Asian
type: Population
allele count: 2
allele frequency: 2.572678157962439e-4
allele num: 7774
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7190
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5806
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 3.154267967195613e-4
allele num: 41214
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5552
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

DP
type: SiteQuality
SIO_000300: 9.99696e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.846e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.51e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 6.42e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

African
type: Population
allele count: 5
allele frequency: 6.954102920723226e-4
allele num: 7190
num of homozygotes: 0

Latino
type: Population
allele count: 19
allele frequency: 2.647714604236343e-3
allele num: 7176
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 132
allele frequency: 3.20279516669093e-3
allele num: 41214
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5806
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.602305475504323e-4
allele num: 5552
num of homozygotes: 0

South Asian
type: Population
allele count: 25
allele frequency: 3.215847697453048e-3
allele num: 7774
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.846e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.51e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

QD
type: SiteQuality
SIO_000300: 6.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.91e0

DP
type: SiteQuality
SIO_000300: 9.99696e5

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5018
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.432664756446991e-4
allele num: 34900
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.629195177582274e-4
allele num: 6138
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6212
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.8e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.589e0

FS
type: SiteQuality
SIO_000300: 3.397e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.16e0

MQ
type: SiteQuality
SIO_000300: 5.698e1

VQSLOD
type: SiteQuality
SIO_000300: -2.338e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.25e-1

QD
type: SiteQuality
SIO_000300: 1.56e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.957e0

DP
type: SiteQuality
SIO_000300: 9.78767e5

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5640
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7244
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7270
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 9.795758436596954e-5
allele num: 40834
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.75794e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.42e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.35e0

QD
type: SiteQuality
SIO_000300: 1.07e0

MQ
type: SiteQuality
SIO_000300: 5.674e1

MQRankSum
type: SiteQuality
SIO_000300: -2.74e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.203e0

VQSLOD
type: SiteQuality
SIO_000300: -4.615e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6960
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5294
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7102
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.182689816014512e-5
allele num: 38590
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.771e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.99e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.143e0

MQRankSum
type: SiteQuality
SIO_000300: -1.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.91e-2

QD
type: SiteQuality
SIO_000300: 1.84e0

VQSLOD
type: SiteQuality
SIO_000300: -5.39e-1

DP
type: SiteQuality
SIO_000300: 8.28794e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33480
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5714
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3882
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4350
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10202
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

QD
type: SiteQuality
SIO_000300: 1.358e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.206e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.05e-2

DP
type: SiteQuality
SIO_000300: 1.115551e6

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5716
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3878
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4150
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4318
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.796238244514106e-5
allele num: 10208
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.116881e6

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.05e-2

QD
type: SiteQuality
SIO_000300: 1.364e1

VQSLOD
type: SiteQuality
SIO_000300: 4.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.335e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.56e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34356
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3966
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5858
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 9.72762645914397e-5
allele num: 10280
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.485e0

QD
type: SiteQuality
SIO_000300: 1.374e1

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

FS
type: SiteQuality
SIO_000300: 2.161e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

DP
type: SiteQuality
SIO_000300: 1.154465e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.305e0

South Asian
type: Population
allele count: 1
allele frequency: 9.704968944099378e-5
allele num: 10304
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 546
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4000
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5886
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.885669763952213e-5
allele num: 34654
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.024e1

VQSLOD
type: SiteQuality
SIO_000300: -1.166e0

FS
type: SiteQuality
SIO_000300: 1.47e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

MQ
type: SiteQuality
SIO_000300: 5.703e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.8e-3

DP
type: SiteQuality
SIO_000300: 1.174214e6

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4576
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4442
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5910
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.752746936662256e-5
allele num: 34766
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 548
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.182648e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.91e0

MQRankSum
type: SiteQuality
SIO_000300: -5.0e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-1

QD
type: SiteQuality
SIO_000300: 8.67e0

FS
type: SiteQuality
SIO_000300: 1.564e0

VQSLOD
type: SiteQuality
SIO_000300: 3.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.34e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5966
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35124
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4482
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.680542110358181e-5
allele num: 10330
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4628
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.89e0

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.259e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

DP
type: SiteQuality
SIO_000300: 1.188758e6

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4114
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.566998830930246e-5
allele num: 35926
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6070
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10438
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 562
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.36e-1

DP
type: SiteQuality
SIO_000300: 1.214239e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.999e0

MQRankSum
type: SiteQuality
SIO_000300: 1.56e0

QD
type: SiteQuality
SIO_000300: 1.12e1

FS
type: SiteQuality
SIO_000300: 1.747e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.89e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36936
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6178
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4884
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4190
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4894
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 9.475080538184574e-5
allele num: 10554
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DP
type: SiteQuality
SIO_000300: 1.239581e6

MQ
type: SiteQuality
SIO_000300: 5.944e1

FS
type: SiteQuality
SIO_000300: 1.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.4e-2

QD
type: SiteQuality
SIO_000300: 1.32e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.88e0

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.07e-1

Latino
type: Population
allele count: 5
allele frequency: 9.885330170027679e-4
allele num: 5058
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4976
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10612
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4216
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37692
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.981e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

DP
type: SiteQuality
SIO_000300: 1.258159e6

MQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

FS
type: SiteQuality
SIO_000300: 1.049e0

QD
type: SiteQuality
SIO_000300: 1.083e1

VQSLOD
type: SiteQuality
SIO_000300: -2.159e0

MQ
type: SiteQuality
SIO_000300: 5.843e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.29e-1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6276
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10648
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.263157894736842e-5
allele num: 38000
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5128
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5016
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4256
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e0

MQRankSum
type: SiteQuality
SIO_000300: 3.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.344e0

QD
type: SiteQuality
SIO_000300: 1.389e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.53e-1

FS
type: SiteQuality
SIO_000300: 7.853e0

DP
type: SiteQuality
SIO_000300: 1.264939e6

VQSLOD
type: SiteQuality
SIO_000300: 2.26e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4280
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5208
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6322
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10706
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.219751539826704e-5
allele num: 38316
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.33e-1

QD
type: SiteQuality
SIO_000300: 1.03e1

DP
type: SiteQuality
SIO_000300: 1.269275e6

FS
type: SiteQuality
SIO_000300: 5.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.133e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.17e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5224
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10830
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4394
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.932e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.9e0

QD
type: SiteQuality
SIO_000300: 1.593e1

DP
type: SiteQuality
SIO_000300: 1.292651e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39918
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10894
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.773049645390071e-4
allele num: 5640
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4428
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5290
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DP
type: SiteQuality
SIO_000300: 1.302778e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.324e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.62e0

QD
type: SiteQuality
SIO_000300: 4.35e0

MQ
type: SiteQuality
SIO_000300: 5.801e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.623e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.19e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.788e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5924
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6632
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4524
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.084302325581395e-5
allele num: 11008
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41102
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.647e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

DP
type: SiteQuality
SIO_000300: 1.325036e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

FS
type: SiteQuality
SIO_000300: 6.44e-1

QD
type: SiteQuality
SIO_000300: 1.861e1

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

VQSLOD
type: SiteQuality
SIO_000300: -1.39e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.307337332718043e-5
allele num: 43340
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6408
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5800
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4712
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 634
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11220
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

MQ
type: SiteQuality
SIO_000300: 5.9e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.048e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.3e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.585e-1

FS
type: SiteQuality
SIO_000300: 2.236e0

MQRankSum
type: SiteQuality
SIO_000300: 2.85e-1

DP
type: SiteQuality
SIO_000300: 1.36045e6

QD
type: SiteQuality
SIO_000300: 8.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4736
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43736
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.449695563931574e-4
allele num: 6898
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
type: Population
allele count: 24
allele frequency: 2.12879191059074e-3
allele num: 11274
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FS
type: SiteQuality
SIO_000300: 5.43e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

DP
type: SiteQuality
SIO_000300: 1.366583e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.41e-1

QD
type: SiteQuality
SIO_000300: 1.026e1

Other
type: Population
allele count: 1
allele frequency: 1.557632398753894e-3
allele num: 642
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44004
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South Asian
type: Population
allele count: 1
allele frequency: 8.855827134254339e-5
allele num: 11292
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4764
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
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African
type: Population
allele count: 4
allele frequency: 5.775339301183945e-4
allele num: 6926
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MQ
type: SiteQuality
SIO_000300: 5.981e1

MQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

QD
type: SiteQuality
SIO_000300: 1.186e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.74e-1

DP
type: SiteQuality
SIO_000300: 1.37012e6

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
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East Asian
type: Population
allele count: 0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6690
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.463488662738796e-5
allele num: 44808
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 5.216e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 9.84e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.285e0

Latino
type: Population
allele count: 0
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num of homozygotes: 0

Other
type: Population
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.190196679661834e-5
allele num: 45658
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6134
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4896
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

QD
type: SiteQuality
SIO_000300: 1.161e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.71e-1

DP
type: SiteQuality
SIO_000300: 1.400375e6

FS
type: SiteQuality
SIO_000300: 5.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.14e0

Latino
type: Population
allele count: 3
allele frequency: 4.331504475887958e-4
allele num: 6926
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4896
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Other
type: Population
allele count: 0
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South Asian
type: Population
allele count: 0
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African
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allele count: 44
allele frequency: 6.198929275852353e-3
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East Asian
type: Population
allele count: 1
allele frequency: 1.63025758069775e-4
allele num: 6134
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.14e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

DP
type: SiteQuality
SIO_000300: 1.400375e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

QD
type: SiteQuality
SIO_000300: 1.161e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4922
num of homozygotes: 0

African
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allele count: 7
allele frequency: 9.809417040358745e-4
allele num: 7136
num of homozygotes: 0

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

East Asian
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allele count: 0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
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allele num: 656
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -9.4e-2

FS
type: SiteQuality
SIO_000300: 1.754e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.92e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

VQSLOD
type: SiteQuality
SIO_000300: 2.14e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.95e-1

DP
type: SiteQuality
SIO_000300: 1.405852e6

QD
type: SiteQuality
SIO_000300: 1.186e1

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5004
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.124856572181378e-5
allele num: 47062
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.52e0

QD
type: SiteQuality
SIO_000300: 1.106e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.21e-1

DP
type: SiteQuality
SIO_000300: 1.421044e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11690
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7216
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5004
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.699885257745102e-4
allele num: 47062
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.577287066246057e-4
allele num: 6340
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.786291446085261e-4
allele num: 7178
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.23e-1

DP
type: SiteQuality
SIO_000300: 1.421044e6

MQRankSum
type: SiteQuality
SIO_000300: 5.21e-1

QD
type: SiteQuality
SIO_000300: 1.106e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6386
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.115685693733339e-5
allele num: 47266
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7198
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.557247989046722e-5
allele num: 11686
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 654
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VQSLOD
type: SiteQuality
SIO_000300: -3.01e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.42648e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

QD
type: SiteQuality
SIO_000300: 7.84e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

FS
type: SiteQuality
SIO_000300: 3.455e0

MQRankSum
type: SiteQuality
SIO_000300: -3.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47870
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 660
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7320
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.966955153422502e-4
allele num: 5084
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7326
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11752
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

FS
type: SiteQuality
SIO_000300: 1.623e0

QD
type: SiteQuality
SIO_000300: 1.378e1

DP
type: SiteQuality
SIO_000300: 1.429762e6

VQSLOD
type: SiteQuality
SIO_000300: -6.004e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e0

MQRankSum
type: SiteQuality
SIO_000300: 2.45e-1

MQ
type: SiteQuality
SIO_000300: 5.782e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.62e-1

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 8.346548702111677e-5
allele num: 47924
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7294
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6450
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7322
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11748
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 656
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.428773e6

MQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-2

MQ
type: SiteQuality
SIO_000300: 5.938e1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

QD
type: SiteQuality
SIO_000300: 1.069e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -8.53e-1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7340
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.078483538410376e-5
allele num: 48112
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11792
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5080
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.830000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.6e-2

DP
type: SiteQuality
SIO_000300: 1.431275e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.78e-1

QD
type: SiteQuality
SIO_000300: 7.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5056
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.465966813410092e-5
allele num: 11812
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6356
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7226
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47698
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.35e-1

FS
type: SiteQuality
SIO_000300: 3.821e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.68e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.34e-1

QD
type: SiteQuality
SIO_000300: 7.3e0

MQRankSum
type: SiteQuality
SIO_000300: 6.68e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.823e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

DP
type: SiteQuality
SIO_000300: 1.415907e6

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6270
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.245383145828911e-5
allele num: 47110
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7244
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7040
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11728
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e0

MQRankSum
type: SiteQuality
SIO_000300: -8.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.176e0

FS
type: SiteQuality
SIO_000300: 1.032e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.176e0

VQSLOD
type: SiteQuality
SIO_000300: -1.928e0

DP
type: SiteQuality
SIO_000300: 1.400981e6

QD
type: SiteQuality
SIO_000300: 9.949999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

MQ
type: SiteQuality
SIO_000300: 5.682e1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 644
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7002
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.661008141347653e-5
allele num: 11546
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4836
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44962
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 8.327781479013991e-4
allele num: 6004
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e-1

FS
type: SiteQuality
SIO_000300: 5.801e0

VQSLOD
type: SiteQuality
SIO_000300: 5.83e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.95e-1

DP
type: SiteQuality
SIO_000300: 1.32963e6

QD
type: SiteQuality
SIO_000300: 1.071e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.6e-2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4580
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5528
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5692
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11178
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.705e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.361e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

QD
type: SiteQuality
SIO_000300: 5.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 9.56e-1

DP
type: SiteQuality
SIO_000300: 1.214976e6

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11178
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4580
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5692
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 602
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5528
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.214976e6

VQSLOD
type: SiteQuality
SIO_000300: -1.705e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.72e-1

FS
type: SiteQuality
SIO_000300: 6.361e0

MQRankSum
type: SiteQuality
SIO_000300: 9.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

QD
type: SiteQuality
SIO_000300: 5.45e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 594
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5542
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5348
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11076
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DP
type: SiteQuality
SIO_000300: 1.196663e6

MQRankSum
type: SiteQuality
SIO_000300: 7.29e-1

MQ
type: SiteQuality
SIO_000300: 6.213e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

QD
type: SiteQuality
SIO_000300: 9.529999999999999e0

FS
type: SiteQuality
SIO_000300: 7.782e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.307e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5338
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4498
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40740
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.816200508536142e-4
allele num: 5506
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.6e0

FS
type: SiteQuality
SIO_000300: 2.174e0

DP
type: SiteQuality
SIO_000300: 1.191752e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.331e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36900
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 550
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4654
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4766
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4226
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.53e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.19e-1

DP
type: SiteQuality
SIO_000300: 1.128142e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -8.310999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.793e0

QD
type: SiteQuality
SIO_000300: 7.03e0

Latino
type: Population
allele count: 2
allele frequency: 6.234413965087282e-4
allele num: 3208
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.012965964343598e-4
allele num: 9872
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 496
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.88040616773223e-4
allele num: 5318
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30710
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.13e-2

FS
type: SiteQuality
SIO_000300: 5.113e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

QD
type: SiteQuality
SIO_000300: 1.37e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

VQSLOD
type: SiteQuality
SIO_000300: 6.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-1

DP
type: SiteQuality
SIO_000300: 1.07259e6

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 490
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3792
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 6.648494116082707e-5
allele num: 30082
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3084
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.658e1

DP
type: SiteQuality
SIO_000300: 1.069471e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.33e-1

FS
type: SiteQuality
SIO_000300: 1.209e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-2

Latino
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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European (Finnish)
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African
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South Asian
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Other
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FS
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QD
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InbreedingCoeff
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DP
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BaseQRankSum
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MQRankSum
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MQ
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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European (Non-Finnish)
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African
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Latino
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Other
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European (Finnish)
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South Asian
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BaseQRankSum
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FS
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VQSLOD
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QD
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MQ
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InbreedingCoeff
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DP
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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Latino
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African
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South Asian
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European (Non-Finnish)
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East Asian
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Other
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InbreedingCoeff
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ReadPosRankSum
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FS
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BaseQRankSum
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MQ
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MQRankSum
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ClippingRankSum
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QD
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DP
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VQSLOD
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European (Finnish)
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European (Non-Finnish)
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Other
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South Asian
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Latino
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East Asian
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MQRankSum
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MQ
type: SiteQuality
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VQSLOD
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QD
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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FS
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DP
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Other
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Latino
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African
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South Asian
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East Asian
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European (Non-Finnish)
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FS
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VQSLOD
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MQ
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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DP
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QD
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Other
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European (Non-Finnish)
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South Asian
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Latino
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European (Finnish)
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East Asian
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InbreedingCoeff
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FS
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VQSLOD
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BaseQRankSum
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DP
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ReadPosRankSum
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ClippingRankSum
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QD
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MQRankSum
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MQ
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European (Finnish)
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Other
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Latino
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African
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South Asian
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European (Non-Finnish)
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allele frequency: 3.000120004800192e-5
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MQ
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FS
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BaseQRankSum
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MQRankSum
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DP
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
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VQSLOD
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.500015000150001e-5
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South Asian
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Other
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East Asian
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European (Finnish)
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FS
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InbreedingCoeff
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VQSLOD
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MQ
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ClippingRankSum
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BaseQRankSum
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QD
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MQRankSum
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DP
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ReadPosRankSum
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Other
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East Asian
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Latino
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South Asian
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European (Finnish)
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African
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FS
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ClippingRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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MQ
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DP
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BaseQRankSum
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QD
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

South Asian
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European (Finnish)
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European (Non-Finnish)
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African
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Latino
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Other
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East Asian
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MQ
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MQRankSum
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VQSLOD
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DP
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InbreedingCoeff
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ReadPosRankSum
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FS
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ClippingRankSum
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QD
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BaseQRankSum
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GenotypeQuality
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Other
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African
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Latino
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European (Finnish)
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East Asian
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European (Non-Finnish)
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South Asian
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ReadPosRankSum
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DP
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MQRankSum
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FS
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InbreedingCoeff
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MQ
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VQSLOD
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BaseQRankSum
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QD
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ClippingRankSum
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GenotypeQuality
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African
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South Asian
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Latino
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East Asian
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European (Finnish)
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European (Non-Finnish)
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Other
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BaseQRankSum
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MQ
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ClippingRankSum
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QD
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InbreedingCoeff
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FS
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VQSLOD
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ReadPosRankSum
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MQRankSum
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DP
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GenotypeQuality
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East Asian
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African
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South Asian
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Other
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European (Non-Finnish)
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Latino
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European (Finnish)
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FS
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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MQRankSum
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VQSLOD
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MQ
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QD
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ClippingRankSum
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GenotypeQuality
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variant carriers: 0

Latino
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European (Non-Finnish)
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East Asian
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South Asian
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African
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European (Finnish)
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Other
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ClippingRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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DP
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BaseQRankSum
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VQSLOD
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QD
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MQ
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GenotypeQuality
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East Asian
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South Asian
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European (Finnish)
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Other
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African
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European (Non-Finnish)
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Latino
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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FS
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VQSLOD
type: SiteQuality
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MQ
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QD
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BaseQRankSum
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DP
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 1.211387038158692e-4
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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DP
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FS
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BaseQRankSum
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MQRankSum
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VQSLOD
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QD
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MQ
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 9.183673469387755e-4
allele num: 9800
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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Latino
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allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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Other
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InbreedingCoeff
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FS
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ClippingRankSum
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BaseQRankSum
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QD
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VQSLOD
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MQ
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DP
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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European (Non-Finnish)
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allele frequency: 4.49599856128046e-5
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African
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allele frequency: 1.020408163265306e-4
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East Asian
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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VQSLOD
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MQRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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FS
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BaseQRankSum
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DP
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QD
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 1.498621268433042e-5
allele num: 66728
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South Asian
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East Asian
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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QD
type: SiteQuality
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FS
type: SiteQuality
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DP
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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MQ
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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South Asian
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Latino
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African
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East Asian
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European (Non-Finnish)
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QD
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MQRankSum
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FS
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
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DP
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ClippingRankSum
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GenotypeQuality
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variant carriers: 0

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

African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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South Asian
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Other
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.498756032493031e-5
allele num: 66722
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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MQ
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ClippingRankSum
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FS
type: SiteQuality
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ReadPosRankSum
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DP
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Latino
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East Asian
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allele frequency: 1.164144353899884e-4
allele num: 8590
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Other
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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QD
type: SiteQuality
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BaseQRankSum
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MQ
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MQRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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DP
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Latino
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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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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East Asian
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VQSLOD
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MQRankSum
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QD
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DP
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MQ
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BaseQRankSum
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ReadPosRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

East Asian
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African
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European (Non-Finnish)
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European (Finnish)
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Latino
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Other
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South Asian
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MQRankSum
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QD
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ClippingRankSum
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FS
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MQ
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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DP
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

East Asian
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Latino
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South Asian
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Other
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European (Non-Finnish)
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African
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allele frequency: 1.837484687627603e-3
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European (Finnish)
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VQSLOD
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FS
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QD
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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DP
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InbreedingCoeff
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ReadPosRankSum
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MQ
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GenotypeQuality
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variant carriers: 0

Other
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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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European (Finnish)
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FS
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MQ
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MQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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DP
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

Latino
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allele num: 11564
num of homozygotes: 0

African
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East Asian
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European (Finnish)
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European (Non-Finnish)
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Other
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South Asian
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InbreedingCoeff
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MQRankSum
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VQSLOD
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DP
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ClippingRankSum
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ReadPosRankSum
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MQ
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BaseQRankSum
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FS
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QD
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GenotypeQuality
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variant carriers: 0

African
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European (Finnish)
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Latino
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South Asian
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Other
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East Asian
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European (Non-Finnish)
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VQSLOD
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QD
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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FS
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ClippingRankSum
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DP
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BaseQRankSum
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MQ
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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Other
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African
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East Asian
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.135752e6

VQSLOD
type: SiteQuality
SIO_000300: 2.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

QD
type: SiteQuality
SIO_000300: 9.279999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -5.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.505e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.76e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

GenotypeQuality
all individuals: 37722
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66278
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.025220422390814e-4
allele num: 9754
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.366e1

FS
type: SiteQuality
SIO_000300: 4.768e0

MQ
type: SiteQuality
SIO_000300: 3.377e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.285e0

MQRankSum
type: SiteQuality
SIO_000300: -2.1e-2

VQSLOD
type: SiteQuality
SIO_000300: -5.351e0

DP
type: SiteQuality
SIO_000300: 2.122337e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.121e0

GenotypeQuality
all individuals: 1391
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.518372304889159e-4
allele num: 6586
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66070
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.83e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

FS
type: SiteQuality
SIO_000300: 3.025e0

VQSLOD
type: SiteQuality
SIO_000300: 5.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.14e-1

DP
type: SiteQuality
SIO_000300: 2.109904e6

QD
type: SiteQuality
SIO_000300: 1.692e1

GenotypeQuality
all individuals: 1852
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8452
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514508996183437e-5
allele num: 66028
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.46e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.947e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.013e0

MQRankSum
type: SiteQuality
SIO_000300: -1.013e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.140000000000001e0

FS
type: SiteQuality
SIO_000300: 5.409e0

DP
type: SiteQuality
SIO_000300: 2.10623e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

GenotypeQuality
all individuals: 1039
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522997258604934e-5
allele num: 65660
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9704
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16372
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

QD
type: SiteQuality
SIO_000300: 1.511e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.14e-1

MQ
type: SiteQuality
SIO_000300: 5.93e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-2

DP
type: SiteQuality
SIO_000300: 2.075392e6

FS
type: SiteQuality
SIO_000300: 8.506e0

VQSLOD
type: SiteQuality
SIO_000300: -4.063e-1