16-48242348-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48242348
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48242348
    reference: chr 16
allele count: 3
allele frequency: 2.474634991338777e-5
allele num: 121230
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1668C>A
  hgvsp: ENST00000356608.2:c.1668C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1668C>A
  hgvsp: ENST00000394747.1:c.1668C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1668C>A
  hgvsp: ENST00000537808.1:c.1668C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1668C>A
  hgvsp: ENST00000353782.5:c.1668C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1668C>A
  hgvsp: ENST00000394748.1:c.1668C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4604
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8260
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10195
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5691
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4386
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14489
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23124
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Ala556Ala
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

16-48242358-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48242358
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48242358
    reference: chr 16
allele count: 2
allele frequency: 1.649593375233005e-5
allele num: 121242
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1658T>C
  hgvsp: ENSP00000349017.2:p.Leu553Pro
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1658T>C
  hgvsp: ENSP00000378230.1:p.Leu553Pro
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1658T>C
  hgvsp: ENSP00000311326.6:p.Leu553Pro
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1658T>C
  hgvsp: ENSP00000438530.1:p.Leu553Pro
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1658T>C
  hgvsp: ENSP00000378231.1:p.Leu553Pro
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10191
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4604
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11287
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8252
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2243
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4067
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14500
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3477
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23130
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4387
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu553Pro
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

16-48242359-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48242359
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48242359
    reference: chr 16
allele count: 467
allele frequency: 3.851609923462655e-3
allele num: 121248
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1657C>T
  hgvsp: ENST00000356608.2:c.1657C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1657C>T
  hgvsp: ENST00000394747.1:c.1657C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1657C>T
  hgvsp: ENST00000537808.1:c.1657C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1657C>T
  hgvsp: ENST00000394748.1:c.1657C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1657C>T
  hgvsp: ENST00000353782.5:c.1657C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3252
  bin: 5.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 8291
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 8194
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 269
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  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 11223
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6453
  bin: 4.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 9.75e1
  variant carriers: 223
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 6.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 8.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 5.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 10126
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 6.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 3455
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4032
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2929
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genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu553Leu
num of homozygotes: 5
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

16-48242364-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48242364
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48242364
    reference: chr 16
allele count: 8
allele frequency: 6.597938144329897e-5
allele num: 121250
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1652G>A
  hgvsp: ENSP00000438530.1:p.Ser551Asn
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1652G>A
  hgvsp: ENSP00000311326.6:p.Ser551Asn
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1652G>A
  hgvsp: ENSP00000378231.1:p.Ser551Asn
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1652G>A
  hgvsp: ENSP00000378230.1:p.Ser551Asn
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1652G>A
  hgvsp: ENSP00000349017.2:p.Ser551Asn
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 8189
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6468
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genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4608
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3250
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4064
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2232
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4381
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23125
  bin: 9.75e1
  variant carriers: 8
hgvs: p.Ser551Asn
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

16-48242366-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48242366
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48242366
    reference: chr 16
allele count: 1
allele frequency: 8.247286642694553e-6
allele num: 121252
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1650G>C
  hgvsp: ENSP00000311326.6:p.Lys550Asn
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1650G>C
  hgvsp: ENSP00000378230.1:p.Lys550Asn
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1650G>C
  hgvsp: ENSP00000378231.1:p.Lys550Asn
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1650G>C
  hgvsp: ENSP00000349017.2:p.Lys550Asn
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1650G>C
  hgvsp: ENSP00000438530.1:p.Lys550Asn
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10188
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3469
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14501
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2231
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23124
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5702
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys550Asn
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

16-48242366-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48242366
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48242366
    reference: chr 16
allele count: 1
allele frequency: 8.247286642694553e-6
allele num: 121252
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1650G>A
  hgvsp: ENST00000394747.1:c.1650G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1650G>A
  hgvsp: ENST00000537808.1:c.1650G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1650G>A
  hgvsp: ENST00000353782.5:c.1650G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1650G>A
  hgvsp: ENST00000356608.2:c.1650G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1650G>A
  hgvsp: ENST00000394748.1:c.1650G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10188
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4383
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14501
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5702
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2231
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys550Lys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/16-48242369-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48242369
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48242369
    reference: chr 16
allele count: 1
allele frequency: 8.246878556466378e-6
allele num: 121258
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1647T>G
  hgvsp: ENST00000353782.5:c.1647T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1647T>G
  hgvsp: ENST00000394747.1:c.1647T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1647T>G
  hgvsp: ENST00000394748.1:c.1647T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1647T>G
  hgvsp: ENST00000537808.1:c.1647T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1647T>G
  hgvsp: ENST00000356608.2:c.1647T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10188
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8319
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5703
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2231
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23126
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4064
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly549Gly
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

16-48242374-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48242374
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48242374
    reference: chr 16
allele count: 4
allele frequency: 3.298588204248581e-5
allele num: 121264
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1642A>T
  hgvsp: ENSP00000349017.2:p.Ser548Cys
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1642A>T
  hgvsp: ENSP00000378231.1:p.Ser548Cys
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1642A>T
  hgvsp: ENSP00000311326.6:p.Ser548Cys
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1642A>T
  hgvsp: ENSP00000438530.1:p.Ser548Cys
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1642A>T
  hgvsp: ENSP00000378230.1:p.Ser548Cys
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8320
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8173
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4608
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2948
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14493
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5696
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2231
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4383
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser548Cys
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ

16-48242376-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48242376
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48242376
    reference: chr 16
allele count: 2
allele frequency: 1.649375711293276e-5
allele num: 121258
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1640G>C
  hgvsp: ENSP00000311326.6:p.Gly547Ala
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1640G>C
  hgvsp: ENSP00000378230.1:p.Gly547Ala
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1640G>C
  hgvsp: ENSP00000349017.2:p.Gly547Ala
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1640G>C
  hgvsp: ENSP00000438530.1:p.Gly547Ala
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1640G>C
  hgvsp: ENSP00000378231.1:p.Gly547Ala
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10197
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6467
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8317
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11322
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8157
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3466
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5700
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2948
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2232
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14474
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly547Ala
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

16-48242378-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48242378
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48242378
    reference: chr 16
allele count: 7
allele frequency: 5.773100649886187e-5
allele num: 121252
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1638G>A
  hgvsp: ENST00000353782.5:c.1638G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1638G>A
  hgvsp: ENST00000394748.1:c.1638G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1638G>A
  hgvsp: ENST00000394747.1:c.1638G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1638G>A
  hgvsp: ENST00000537808.1:c.1638G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1638G>A
  hgvsp: ENST00000356608.2:c.1638G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8157
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10197
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4611
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5700
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2232
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3468
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2947
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4381
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr546Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

16-48242379-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48242379
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48242379
    reference: chr 16
allele count: 6050
allele frequency: 4.989032375109264e-2
allele num: 121266
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1637C>T
  hgvsp: ENSP00000378231.1:p.Thr546Met
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1637C>T
  hgvsp: ENSP00000438530.1:p.Thr546Met
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1637C>T
  hgvsp: ENSP00000378230.1:p.Thr546Met
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1637C>T
  hgvsp: ENSP00000311326.6:p.Thr546Met
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1637C>T
  hgvsp: ENSP00000349017.2:p.Thr546Met
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 7.75e1
  variant carriers: 330
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 5.75e1
  variant carriers: 217
genotype depth: GenotypeDepth
  all individuals: 9463
  bin: 3.25e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 7577
  bin: 2.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 5878
  bin: 4.25e1
  variant carriers: 126
genotype depth: GenotypeDepth
  all individuals: 10689
  bin: 2.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 7660
  bin: 3.75e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 8.25e1
  variant carriers: 325
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 5.25e1
  variant carriers: 205
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 7.25e1
  variant carriers: 304
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 6.25e1
  variant carriers: 251
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 8.75e1
  variant carriers: 331
genotype depth: GenotypeDepth
  all individuals: 4185
  bin: 4.75e1
  variant carriers: 137
genotype depth: GenotypeDepth
  all individuals: 3693
  bin: 9.75e1
  variant carriers: 2755
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 6.75e1
  variant carriers: 272
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.25e1
  variant carriers: 338
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3150
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1999
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5373
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4029
  bin: 7.75e1
  variant carriers: 1
hgvs: p.Thr546Met
num of homozygotes: 213
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

16-48242382-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48242382
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48242382
    reference: chr 16
allele count: 14
allele frequency: 1.154543955137721e-4
allele num: 121260
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1634A>G
  hgvsp: ENSP00000311326.6:p.Asn545Ser
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1634A>G
  hgvsp: ENSP00000378230.1:p.Asn545Ser
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1634A>G
  hgvsp: ENSP00000378231.1:p.Asn545Ser
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1634A>G
  hgvsp: ENSP00000349017.2:p.Asn545Ser
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1634A>G
  hgvsp: ENSP00000438530.1:p.Asn545Ser
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8376
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6473
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7769
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2999
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3482
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5869
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4118
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14916
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22355
  bin: 9.75e1
  variant carriers: 14
hgvs: p.Asn545Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

16-48242386-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48242386
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48242386
    reference: chr 16
allele count: 5
allele frequency: 4.123643321347277e-5
allele num: 121252
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1630G>A
  hgvsp: ENSP00000378230.1:p.Gly544Ser
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1630G>A
  hgvsp: ENSP00000378231.1:p.Gly544Ser
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1630G>A
  hgvsp: ENSP00000349017.2:p.Gly544Ser
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1630G>A
  hgvsp: ENSP00000311326.6:p.Gly544Ser
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1630G>A
  hgvsp: ENSP00000438530.1:p.Gly544Ser
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6472
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4593
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10416
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22347
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14901
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5869
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4461
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly544Ser
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-48242388-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48242388
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48242388
    reference: chr 16
allele count: 1
allele frequency: 8.247694769311978e-6
allele num: 121246
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1628G>C
  hgvsp: ENSP00000438530.1:p.Cys543Ser
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1628G>C
  hgvsp: ENSP00000349017.2:p.Cys543Ser
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1628G>C
  hgvsp: ENSP00000378231.1:p.Cys543Ser
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1628G>C
  hgvsp: ENSP00000378230.1:p.Cys543Ser
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1628G>C
  hgvsp: ENSP00000311326.6:p.Cys543Ser
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4593
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4464
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2205
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3481
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14888
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Cys543Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/16-48242393-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48242393
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48242393
    reference: chr 16
allele count: 1
allele frequency: 8.248647221855616e-6
allele num: 121232
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1623G>T
  hgvsp: ENST00000394748.1:c.1623G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1623G>T
  hgvsp: ENST00000353782.5:c.1623G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1623G>T
  hgvsp: ENST00000356608.2:c.1623G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1623G>T
  hgvsp: ENST00000537808.1:c.1623G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1623G>T
  hgvsp: ENST00000394747.1:c.1623G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4593
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22341
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14869
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5867
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly541Gly
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP

16-48242399-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48242399
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48242399
    reference: chr 16
allele count: 1
allele frequency: 8.249736008447729e-6
allele num: 121216
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1617G>C
  hgvsp: ENSP00000378231.1:p.Met539Ile
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1617G>C
  hgvsp: ENSP00000438530.1:p.Met539Ile
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1617G>C
  hgvsp: ENSP00000311326.6:p.Met539Ile
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1617G>C
  hgvsp: ENSP00000378230.1:p.Met539Ile
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1617G>C
  hgvsp: ENSP00000349017.2:p.Met539Ile
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4463
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5865
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14833
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Met539Ile
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

16-48242400-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48242400
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48242400
    reference: chr 16
allele count: 1
allele frequency: 8.250280509537325e-6
allele num: 121208
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1616T>C
  hgvsp: ENSP00000378230.1:p.Met539Thr
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1616T>C
  hgvsp: ENSP00000349017.2:p.Met539Thr
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1616T>C
  hgvsp: ENSP00000378231.1:p.Met539Thr
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1616T>C
  hgvsp: ENSP00000311326.6:p.Met539Thr
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1616T>C
  hgvsp: ENSP00000438530.1:p.Met539Thr
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14820
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2992
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3483
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22341
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4104
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Met539Thr
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

16-48242401-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48242401
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48242401
    reference: chr 16
allele count: 1
allele frequency: 8.251233559417133e-6
allele num: 121194
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1615A>G
  hgvsp: ENSP00000349017.2:p.Met539Val
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1615A>G
  hgvsp: ENSP00000378230.1:p.Met539Val
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1615A>G
  hgvsp: ENSP00000378231.1:p.Met539Val
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1615A>G
  hgvsp: ENSP00000311326.6:p.Met539Val
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1615A>G
  hgvsp: ENSP00000438530.1:p.Met539Val
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11577
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6475
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2989
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14789
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5857
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4104
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4463
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Met539Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

16-48242404-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48242404
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48242404
    reference: chr 16
allele count: 1
allele frequency: 8.252731654177533e-6
allele num: 121172
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1612A>T
  hgvsp: ENSP00000311326.6:p.Met538Leu
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1612A>T
  hgvsp: ENSP00000438530.1:p.Met538Leu
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1612A>T
  hgvsp: ENSP00000349017.2:p.Met538Leu
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1612A>T
  hgvsp: ENSP00000378231.1:p.Met538Leu
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1612A>T
  hgvsp: ENSP00000378230.1:p.Met538Leu
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7605
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11557
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22339
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5846
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14735
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4459
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Met538Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

16-48242407-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48242407
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48242407
    reference: chr 16
allele count: 1
allele frequency: 8.254502831294471e-6
allele num: 121146
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1609G>C
  hgvsp: ENSP00000349017.2:p.Gly537Arg
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1609G>C
  hgvsp: ENSP00000378231.1:p.Gly537Arg
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1609G>C
  hgvsp: ENSP00000311326.6:p.Gly537Arg
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1609G>C
  hgvsp: ENSP00000438530.1:p.Gly537Arg
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1609G>C
  hgvsp: ENSP00000378230.1:p.Gly537Arg
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8372
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10390
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11565
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7560
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6478
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14721
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22340
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5843
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3482
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly537Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

16-48242414-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48242414
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48242414
    reference: chr 16
allele count: 1
allele frequency: 8.259275166011431e-6
allele num: 121076
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1609-7C>T
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1609-7C>T
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1609-7C>T
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1609-7C>T
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1609-7C>T
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10380
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7424
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11532
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22334
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14532
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4447
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5815
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: c.1609-7C>T
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/16-48242415-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48242415
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48242415
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 121048
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1609-8G>T
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1609-8G>T
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1609-8G>T
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1609-8G>T
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1609-8G>T
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11519
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7358
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4590
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4447
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5810
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2205
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2978
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
hgvs: c.1609-8G>T
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

16-48242428-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48242428
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48242428
    reference: chr 16
allele count: 1
allele frequency: 8.26541913940456e-6
allele num: 120986
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1609-21T>C
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1609-21T>C
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1609-21T>C
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1609-21T>C
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1609-21T>C
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4590
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6931
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6472
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2202
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13845
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2954
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5755
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

16-48242444-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48242444
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48242444
    reference: chr 16
allele count: 13
allele frequency: 1.076283675260378e-4
allele num: 120786
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1609-37G>A
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1609-37G>A
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1609-37G>A
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1609-37G>A
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1609-37G>A
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5767
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10442
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6471
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4588
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5409
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11355
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22328
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2863
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3468
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

16-48242456-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48242456
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48242456
    reference: chr 16
allele count: 1018
allele frequency: 8.443928334439283e-3
allele num: 120560
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1609-49T>C
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1609-49T>C
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1609-49T>C
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1609-49T>C
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1609-49T>C
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 9.75e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 8274
  bin: 3.75e1
  variant carriers: 109
genotype depth: GenotypeDepth
  all individuals: 4575
  bin: 4.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 9418
  bin: 3.25e1
  variant carriers: 103
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 5.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 6868
  bin: 2.25e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 1.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 6460
  bin: 4.25e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 9258
  bin: 2.75e1
  variant carriers: 113
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 1.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 6.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 8.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 6.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 8.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 5.25e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 8299
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3412
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3970
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2744
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4976
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1301
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1664
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 43
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

16-48242457-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48242457
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48242457
    reference: chr 16
allele count: 1
allele frequency: 8.29531314807134e-6
allele num: 120550
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1609-50A>T
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1609-50A>T
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1609-50A>T
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1609-50A>T
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1609-50A>T
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3250
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6921
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1047
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7920
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1790
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4034
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3462
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum

16-48244821-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48244821
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48244821
    reference: chr 16
allele count: 1
allele frequency: 8.359107247345984e-6
allele num: 119630
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1608+38A>C
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121270
  ensembl transcript: ENST00000567385
  gene symbol: ABCC11
  hgvsc: ENST00000567385.1:n.2044A>C
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1608+38A>C
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1608+38A>C
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1608+38A>C
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1608+38A>C
  variant of: http://identifiers.org/hgnc/14639
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8196
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4312
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3736
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8697
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2234
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3271
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

16-48244828-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48244828
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48244828
    reference: chr 16
allele count: 12
allele frequency: 1.001535688055018e-4
allele num: 119816
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1608+31A>G
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1608+31A>G
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1608+31A>G
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1608+31A>G
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121270
  ensembl transcript: ENST00000567385
  gene symbol: ABCC11
  hgvsc: ENST00000567385.1:n.2037A>G
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1608+31A>G
  variant of: http://identifiers.org/hgnc/14639
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6630
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8897
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8487
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7575
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8206
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6580
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3301
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3487
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3852
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP

16-48244831-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48244831
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48244831
    reference: chr 16
allele count: 2
allele frequency: 1.668808303990121e-5
allele num: 119846
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1608+28G>C
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1608+28G>C
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121270
  ensembl transcript: ENST00000567385
  gene symbol: ABCC11
  hgvsc: ENST00000567385.1:n.2034G>C
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1608+28G>C
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1608+28G>C
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1608+28G>C
  variant of: http://identifiers.org/hgnc/14639
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7802
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6796
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8215
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8565
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4314
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8907
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3882
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28244
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3498
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2136
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

16-48244838-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48244838
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48244838
    reference: chr 16
allele count: 28
allele frequency: 2.326972940628947e-4
allele num: 120328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1608+21C>T
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1608+21C>T
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1608+21C>T
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1608+21C>T
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121270
  ensembl transcript: ENST00000567385
  gene symbol: ABCC11
  hgvsc: ENST00000567385.1:n.2027C>T
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1608+21C>T
  variant of: http://identifiers.org/hgnc/14639
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8207
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4321
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8640
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7517
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8191
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6627
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8921
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3528
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4047
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2183
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28293
  bin: 9.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 1
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

16-48244838-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48244838
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48244838
    reference: chr 16
allele count: 43
allele frequency: 3.573565587394455e-4
allele num: 120328
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1608+21C>G
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1608+21C>G
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1608+21C>G
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121270
  ensembl transcript: ENST00000567385
  gene symbol: ABCC11
  hgvsc: ENST00000567385.1:n.2027C>G
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1608+21C>G
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1608+21C>G
  variant of: http://identifiers.org/hgnc/14639
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8207
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8191
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8640
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7517
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8921
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4321
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6627
  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4047
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2183
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3352
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/16-48244839-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48244839
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48244839
    reference: chr 16
allele count: 28
allele frequency: 2.326470246107317e-4
allele num: 120354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1608+20G>T
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1608+20G>T
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1608+20G>T
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121270
  ensembl transcript: ENST00000567385
  gene symbol: ABCC11
  hgvsc: ENST00000567385.1:n.2026G>T
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1608+20G>T
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1608+20G>T
  variant of: http://identifiers.org/hgnc/14639
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8933
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7516
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8683
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8277
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4321
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6632
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3353
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3533
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3529
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4027
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2181
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 1
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

16-48244839-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48244839
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48244839
    reference: chr 16
allele count: 4
allele frequency: 3.323528923010452e-5
allele num: 120354
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1608+20G>A
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1608+20G>A
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1608+20G>A
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1608+20G>A
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121270
  ensembl transcript: ENST00000567385
  gene symbol: ABCC11
  hgvsc: ENST00000567385.1:n.2026G>A
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1608+20G>A
  variant of: http://identifiers.org/hgnc/14639
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6632
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8683
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8277
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8933
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11451
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2274
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ

16-48244840-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48244840
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48244840
    reference: chr 16
allele count: 6
allele frequency: 4.979997012001793e-5
allele num: 120482
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121270
  ensembl transcript: ENST00000567385
  gene symbol: ABCC11
  hgvsc: ENST00000567385.1:n.2025C>T
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1608+19C>T
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1608+19C>T
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1608+19C>T
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1608+19C>T
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1608+19C>T
  variant of: http://identifiers.org/hgnc/14639
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8922
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7694
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8213
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2529
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6635
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4319
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4073
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2277
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3533
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

16-48244846-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48244846
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48244846
    reference: chr 16
allele count: 1
allele frequency: 8.277049397430804e-6
allele num: 120816
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1608+13A>G
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121270
  ensembl transcript: ENST00000567385
  gene symbol: ABCC11
  hgvsc: ENST00000567385.1:n.2019A>G
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1608+13A>G
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1608+13A>G
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1608+13A>G
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1608+13A>G
  variant of: http://identifiers.org/hgnc/14639
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6634
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8807
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3385
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3545
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12312
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

16-48244846-T-TGAAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48244846
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48244850
    reference: chr 16
allele count: 4
allele frequency: 3.310819758972322e-5
allele num: 120816
alternate allele: TGAAC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1608+9_1608+12dupGTTC
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1608+9_1608+12dupGTTC
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1608+9_1608+12dupGTTC
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1608+9_1608+12dupGTTC
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1608+9_1608+12dupGTTC
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121270
  ensembl transcript: ENST00000567385
  gene symbol: ABCC11
  hgvsc: ENST00000567385.1:n.2015_2018dupGTTC
  variant of: http://identifiers.org/hgnc/14639
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8559
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6634
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8807
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2281
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2226
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3545
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4137
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3385
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

16-48244854-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48244854
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48244854
    reference: chr 16
allele count: 1
allele frequency: 8.261322141995606e-6
allele num: 121046
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121270
  ensembl transcript: ENST00000567385
  gene symbol: ABCC11
  hgvsc: ENST00000567385.1:n.2011C>T
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1608+5C>T
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1608+5C>T
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1608+5C>T
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1608+5C>T
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1608+5C>T
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8945
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8867
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6635
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3389
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12638
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4182
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28287
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.25e1
  variant carriers: 0
hgvs: c.1608+5C>T
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff

16-48244856-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48244856
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48244856
    reference: chr 16
allele count: 1
allele frequency: 8.25722920416825e-6
allele num: 121106
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121270
  ensembl transcript: ENST00000567385
  gene symbol: ABCC11
  hgvsc: ENST00000567385.1:n.2009A>G
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1608+3A>G
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1608+3A>G
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1608+3A>G
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1608+3A>G
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1608+3A>G
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8818
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2529
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6634
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3551
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12713
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2285
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2238
  bin: 7.25e1
  variant carriers: 0
hgvs: c.1608+3A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD

16-48244861-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48244861
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48244861
    reference: chr 16
allele count: 2
allele frequency: 1.650410126916539e-5
allele num: 121182
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1606A>C
  hgvsp: ENSP00000378230.1:p.Lys536Gln
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1606A>C
  hgvsp: ENSP00000311326.6:p.Lys536Gln
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1606A>C
  hgvsp: ENSP00000378231.1:p.Lys536Gln
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1606A>C
  hgvsp: ENSP00000438530.1:p.Lys536Gln
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121270
  ensembl transcript: ENST00000567385
  gene symbol: ABCC11
  hgvsc: ENST00000567385.1:n.2004A>C
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1606A>C
  hgvsp: ENSP00000349017.2:p.Lys536Gln
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6637
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8906
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8900
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8960
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12783
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3559
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2240
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys536Gln
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

16-48244882-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48244882
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48244882
    reference: chr 16
allele count: 26
allele frequency: 2.14281004813081e-4
allele num: 121336
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1585A>G
  hgvsp: ENSP00000378231.1:p.Lys529Glu
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121270
  ensembl transcript: ENST00000567385
  gene symbol: ABCC11
  hgvsc: ENST00000567385.1:n.1983A>G
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1585A>G
  hgvsp: ENSP00000378230.1:p.Lys529Glu
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1585A>G
  hgvsp: ENSP00000438530.1:p.Lys529Glu
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1585A>G
  hgvsp: ENSP00000349017.2:p.Lys529Glu
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1585A>G
  hgvsp: ENSP00000311326.6:p.Lys529Glu
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8963
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8959
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9073
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8229
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7874
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6638
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3555
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2293
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12859
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys529Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

16-48244884-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48244884
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48244884
    reference: chr 16
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121270
  ensembl transcript: ENST00000567385
  gene symbol: ABCC11
  hgvsc: ENST00000567385.1:n.1981A>T
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1583A>T
  hgvsp: ENSP00000378230.1:p.His528Leu
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1583A>T
  hgvsp: ENSP00000311326.6:p.His528Leu
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1583A>T
  hgvsp: ENSP00000378231.1:p.His528Leu
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1583A>T
  hgvsp: ENSP00000438530.1:p.His528Leu
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1583A>T
  hgvsp: ENSP00000349017.2:p.His528Leu
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8967
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9082
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8969
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4264
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12878
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2261
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His528Leu
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

16-48244885-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48244885
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48244885
    reference: chr 16
allele count: 44
allele frequency: 3.626234155829172e-4
allele num: 121338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1582C>T
  hgvsp: ENSP00000378231.1:p.His528Tyr
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121270
  ensembl transcript: ENST00000567385
  gene symbol: ABCC11
  hgvsc: ENST00000567385.1:n.1980C>T
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1582C>T
  hgvsp: ENSP00000311326.6:p.His528Tyr
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1582C>T
  hgvsp: ENSP00000438530.1:p.His528Tyr
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1582C>T
  hgvsp: ENSP00000349017.2:p.His528Tyr
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1582C>T
  hgvsp: ENSP00000378230.1:p.His528Tyr
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9084
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8967
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6639
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4321
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8966
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8223
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 6.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2259
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3555
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
hgvs: p.His528Tyr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
reference allele: G
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

16-48244896-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48244896
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48244896
    reference: chr 16
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1571G>A
  hgvsp: ENSP00000378230.1:p.Gly524Asp
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1571G>A
  hgvsp: ENSP00000311326.6:p.Gly524Asp
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1571G>A
  hgvsp: ENSP00000438530.1:p.Gly524Asp
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121270
  ensembl transcript: ENST00000567385
  gene symbol: ABCC11
  hgvsc: ENST00000567385.1:n.1969G>A
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1571G>A
  hgvsp: ENSP00000349017.2:p.Gly524Asp
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1571G>A
  hgvsp: ENSP00000378231.1:p.Gly524Asp
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8988
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8227
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8977
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2534
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6641
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4277
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2293
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly524Asp
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

16-48244904-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48244904
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48244904
    reference: chr 16
allele count: 26
allele frequency: 2.142139173134279e-4
allele num: 121374
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1563C>G
  hgvsp: ENSP00000438530.1:p.Asn521Lys
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1563C>G
  hgvsp: ENSP00000311326.6:p.Asn521Lys
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1563C>G
  hgvsp: ENSP00000378230.1:p.Asn521Lys
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1563C>G
  hgvsp: ENSP00000378231.1:p.Asn521Lys
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121270
  ensembl transcript: ENST00000567385
  gene symbol: ABCC11
  hgvsc: ENST00000567385.1:n.1961C>G
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1563C>G
  hgvsp: ENSP00000349017.2:p.Asn521Lys
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8233
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6633
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4321
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8976
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9126
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3559
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2259
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28316
  bin: 9.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2297
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn521Lys
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum

16-48244913-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48244913
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48244913
    reference: chr 16
allele count: 5
allele frequency: 4.119430529923544e-5
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1554A>G
  hgvsp: ENST00000537808.1:c.1554A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1554A>G
  hgvsp: ENST00000356608.2:c.1554A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121270
  ensembl transcript: ENST00000567385
  gene symbol: ABCC11
  hgvsc: ENST00000567385.1:n.1952A>G
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1554A>G
  hgvsp: ENST00000353782.5:c.1554A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1554A>G
  hgvsp: ENST00000394748.1:c.1554A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1554A>G
  hgvsp: ENST00000394747.1:c.1554A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8243
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9031
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8986
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9136
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6634
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2264
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4275
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3570
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu518Glu
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

16-48244920-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48244920
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48244920
    reference: chr 16
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1547C>G
  hgvsp: ENSP00000378230.1:p.Pro516Arg
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1547C>G
  hgvsp: ENSP00000378231.1:p.Pro516Arg
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1547C>G
  hgvsp: ENSP00000349017.2:p.Pro516Arg
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1547C>G
  hgvsp: ENSP00000438530.1:p.Pro516Arg
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121270
  ensembl transcript: ENST00000567385
  gene symbol: ABCC11
  hgvsc: ENST00000567385.1:n.1945C>G
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1547C>G
  hgvsp: ENSP00000311326.6:p.Pro516Arg
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9037
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2534
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3568
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12794
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2270
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro516Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

16-48244921-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48244921
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48244921
    reference: chr 16
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1546C>T
  hgvsp: ENSP00000311326.6:p.Pro516Ser
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121270
  ensembl transcript: ENST00000567385
  gene symbol: ABCC11
  hgvsc: ENST00000567385.1:n.1944C>T
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1546C>T
  hgvsp: ENSP00000349017.2:p.Pro516Ser
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1546C>T
  hgvsp: ENSP00000438530.1:p.Pro516Ser
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1546C>T
  hgvsp: ENSP00000378231.1:p.Pro516Ser
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1546C>T
  hgvsp: ENSP00000378230.1:p.Pro516Ser
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2534
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8990
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8245
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6639
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28307
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3576
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3567
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12804
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4272
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro516Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP

16-48244923-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48244923
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48244923
    reference: chr 16
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1544G>C
  hgvsp: ENSP00000438530.1:p.Gly515Ala
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1544G>C
  hgvsp: ENSP00000311326.6:p.Gly515Ala
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121270
  ensembl transcript: ENST00000567385
  gene symbol: ABCC11
  hgvsc: ENST00000567385.1:n.1942G>C
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1544G>C
  hgvsp: ENSP00000349017.2:p.Gly515Ala
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1544G>C
  hgvsp: ENSP00000378231.1:p.Gly515Ala
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1544G>C
  hgvsp: ENSP00000378230.1:p.Gly515Ala
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6641
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2294
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12817
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28311
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3423
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4276
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly515Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

16-48244924-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48244924
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48244924
    reference: chr 16
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1543G>C
  hgvsp: ENSP00000349017.2:p.Gly515Arg
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1543G>C
  hgvsp: ENSP00000311326.6:p.Gly515Arg
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1543G>C
  hgvsp: ENSP00000378231.1:p.Gly515Arg
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1543G>C
  hgvsp: ENSP00000378230.1:p.Gly515Arg
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1543G>C
  hgvsp: ENSP00000438530.1:p.Gly515Arg
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121270
  ensembl transcript: ENST00000567385
  gene symbol: ABCC11
  hgvsc: ENST00000567385.1:n.1941G>C
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8989
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8254
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4271
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2262
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3572
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly515Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

16-48244924-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48244924
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48244924
    reference: chr 16
allele count: 8
allele frequency: 6.590763045591603e-5
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1543G>A
  hgvsp: ENSP00000349017.2:p.Gly515Arg
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1543G>A
  hgvsp: ENSP00000438530.1:p.Gly515Arg
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1543G>A
  hgvsp: ENSP00000378231.1:p.Gly515Arg
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1543G>A
  hgvsp: ENSP00000378230.1:p.Gly515Arg
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121270
  ensembl transcript: ENST00000567385
  gene symbol: ABCC11
  hgvsc: ENST00000567385.1:n.1941G>A
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1543G>A
  hgvsp: ENSP00000311326.6:p.Gly515Arg
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6647
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8989
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3425
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28318
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12821
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4271
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly515Arg
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

16-48244925-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48244925
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48244925
    reference: chr 16
allele count: 4
allele frequency: 3.295381522795802e-5
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121270
  ensembl transcript: ENST00000567385
  gene symbol: ABCC11
  hgvsc: ENST00000567385.1:n.1940C>T
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1542C>T
  hgvsp: ENST00000537808.1:c.1542C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1542C>T
  hgvsp: ENST00000394748.1:c.1542C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1542C>T
  hgvsp: ENST00000356608.2:c.1542C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1542C>T
  hgvsp: ENST00000394747.1:c.1542C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1542C>T
  hgvsp: ENST00000353782.5:c.1542C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8987
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6646
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9052
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3422
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12822
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4270
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu514Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

16-48244925-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48244925
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48244925
    reference: chr 16
allele count: 3
allele frequency: 2.471536142096851e-5
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1542C>G
  hgvsp: ENST00000537808.1:c.1542C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1542C>G
  hgvsp: ENST00000394748.1:c.1542C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1542C>G
  hgvsp: ENST00000394747.1:c.1542C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1542C>G
  hgvsp: ENST00000356608.2:c.1542C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121270
  ensembl transcript: ENST00000567385
  gene symbol: ABCC11
  hgvsc: ENST00000567385.1:n.1940C>G
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1542C>G
  hgvsp: ENST00000353782.5:c.1542C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9052
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4326
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8987
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6646
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2266
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3574
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3569
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2297
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu514Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

16-48244939-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48244939
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48244939
    reference: chr 16
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1528C>A
  hgvsp: ENSP00000438530.1:p.Pro510Thr
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121270
  ensembl transcript: ENST00000567385
  gene symbol: ABCC11
  hgvsc: ENST00000567385.1:n.1926C>A
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1528C>A
  hgvsp: ENSP00000311326.6:p.Pro510Thr
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1528C>A
  hgvsp: ENSP00000378231.1:p.Pro510Thr
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1528C>A
  hgvsp: ENSP00000349017.2:p.Pro510Thr
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1528C>A
  hgvsp: ENSP00000378230.1:p.Pro510Thr
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7678
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6651
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2275
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3584
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12827
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro510Thr
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

16-48244940-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48244940
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48244940
    reference: chr 16
allele count: 2
allele frequency: 1.647609318878308e-5
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121270
  ensembl transcript: ENST00000567385
  gene symbol: ABCC11
  hgvsc: ENST00000567385.1:n.1925G>A
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1527G>A
  hgvsp: ENST00000394747.1:c.1527G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1527G>A
  hgvsp: ENST00000356608.2:c.1527G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1527G>A
  hgvsp: ENST00000394748.1:c.1527G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1527G>A
  hgvsp: ENST00000353782.5:c.1527G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1527G>A
  hgvsp: ENST00000537808.1:c.1527G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7677
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9063
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6650
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2298
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2275
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4279
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12818
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3584
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg509Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

16-48244944-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48244944
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48244944
    reference: chr 16
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1523C>T
  hgvsp: ENSP00000438530.1:p.Thr508Ile
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1523C>T
  hgvsp: ENSP00000378230.1:p.Thr508Ile
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1523C>T
  hgvsp: ENSP00000311326.6:p.Thr508Ile
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1523C>T
  hgvsp: ENSP00000378231.1:p.Thr508Ile
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121270
  ensembl transcript: ENST00000567385
  gene symbol: ABCC11
  hgvsc: ENST00000567385.1:n.1921C>T
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1523C>T
  hgvsp: ENSP00000349017.2:p.Thr508Ile
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6655
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2270
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3435
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3582
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr508Ile
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

16-48244946-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48244946
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48244946
    reference: chr 16
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1521G>A
  hgvsp: ENSP00000378230.1:p.Met507Ile
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1521G>A
  hgvsp: ENSP00000311326.6:p.Met507Ile
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1521G>A
  hgvsp: ENSP00000438530.1:p.Met507Ile
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1521G>A
  hgvsp: ENSP00000378231.1:p.Met507Ile
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1521G>A
  hgvsp: ENSP00000349017.2:p.Met507Ile
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121270
  ensembl transcript: ENST00000567385
  gene symbol: ABCC11
  hgvsc: ENST00000567385.1:n.1919G>A
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6654
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9069
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9001
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3433
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3574
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2267
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Met507Ile
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

16-48244948-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48244948
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48244948
    reference: chr 16
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121270
  ensembl transcript: ENST00000567385
  gene symbol: ABCC11
  hgvsc: ENST00000567385.1:n.1917A>G
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1519A>G
  hgvsp: ENSP00000349017.2:p.Met507Val
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1519A>G
  hgvsp: ENSP00000378231.1:p.Met507Val
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1519A>G
  hgvsp: ENSP00000311326.6:p.Met507Val
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1519A>G
  hgvsp: ENSP00000438530.1:p.Met507Val
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1519A>G
  hgvsp: ENSP00000378230.1:p.Met507Val
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9003
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9067
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6655
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4287
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3573
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2301
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3587
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3432
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12840
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Met507Val
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

16-48244949-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48244949
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48244949
    reference: chr 16
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1518G>A
  hgvsp: ENST00000356608.2:c.1518G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121270
  ensembl transcript: ENST00000567385
  gene symbol: ABCC11
  hgvsc: ENST00000567385.1:n.1916G>A
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1518G>A
  hgvsp: ENST00000353782.5:c.1518G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1518G>A
  hgvsp: ENST00000394748.1:c.1518G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1518G>A
  hgvsp: ENST00000394747.1:c.1518G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1518G>A
  hgvsp: ENST00000537808.1:c.1518G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9066
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7677
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6655
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8262
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3573
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3587
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2303
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly506Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum

16-48244961-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48244961
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48244961
    reference: chr 16
allele count: 2
allele frequency: 1.647500741375333e-5
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1506T>C
  hgvsp: ENST00000353782.5:c.1506T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121270
  ensembl transcript: ENST00000567385
  gene symbol: ABCC11
  hgvsc: ENST00000567385.1:n.1904T>C
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1506T>C
  hgvsp: ENST00000537808.1:c.1506T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1506T>C
  hgvsp: ENST00000356608.2:c.1506T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1506T>C
  hgvsp: ENST00000394748.1:c.1506T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1506T>C
  hgvsp: ENST00000394747.1:c.1506T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9160
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8269
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6653
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7686
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4327
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3578
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2270
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
hgvs: p.His502His
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS

16-48244966-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48244966
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48244966
    reference: chr 16
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1501G>A
  hgvsp: ENSP00000438530.1:p.Gly501Arg
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1501G>A
  hgvsp: ENSP00000311326.6:p.Gly501Arg
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1501G>A
  hgvsp: ENSP00000378230.1:p.Gly501Arg
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121270
  ensembl transcript: ENST00000567385
  gene symbol: ABCC11
  hgvsc: ENST00000567385.1:n.1899G>A
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1501G>A
  hgvsp: ENSP00000349017.2:p.Gly501Arg
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1501G>A
  hgvsp: ENSP00000378231.1:p.Gly501Arg
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6657
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9060
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3430
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12865
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3590
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3580
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly501Arg
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

16-48244967-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48244967
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48244967
    reference: chr 16
allele count: 7
allele frequency: 5.766157597324503e-5
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1500C>T
  hgvsp: ENST00000394747.1:c.1500C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1500C>T
  hgvsp: ENST00000394748.1:c.1500C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1500C>T
  hgvsp: ENST00000537808.1:c.1500C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121270
  ensembl transcript: ENST00000567385
  gene symbol: ABCC11
  hgvsc: ENST00000567385.1:n.1898C>T
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1500C>T
  hgvsp: ENST00000356608.2:c.1500C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1500C>T
  hgvsp: ENST00000353782.5:c.1500C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4328
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8998
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6655
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28343
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3430
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2300
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asn500Asn
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

16-48244970-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48244970
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48244970
    reference: chr 16
allele count: 3
allele frequency: 2.471128976458378e-5
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1497G>A
  hgvsp: ENST00000394747.1:c.1497G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121270
  ensembl transcript: ENST00000567385
  gene symbol: ABCC11
  hgvsc: ENST00000567385.1:n.1895G>A
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1497G>A
  hgvsp: ENST00000353782.5:c.1497G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1497G>A
  hgvsp: ENST00000537808.1:c.1497G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1497G>A
  hgvsp: ENST00000356608.2:c.1497G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1497G>A
  hgvsp: ENST00000394748.1:c.1497G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8996
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9163
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6659
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12866
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3580
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3591
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg499Arg
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

16-48244978-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48244978
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48244978
    reference: chr 16
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1489C>T
  hgvsp: ENST00000394748.1:c.1489C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1489C>T
  hgvsp: ENST00000353782.5:c.1489C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1489C>T
  hgvsp: ENST00000537808.1:c.1489C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1489C>T
  hgvsp: ENST00000356608.2:c.1489C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1489C>T
  hgvsp: ENST00000394747.1:c.1489C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121270
  ensembl transcript: ENST00000567385
  gene symbol: ABCC11
  hgvsc: ENST00000567385.1:n.1887C>T
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9160
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7686
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2273
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4288
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3579
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3434
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3592
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu497Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

16-48244979-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48244979
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48244979
    reference: chr 16
allele count: 12
allele frequency: 9.884027411702688e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1488G>A
  hgvsp: ENST00000537808.1:c.1488G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1488G>A
  hgvsp: ENST00000353782.5:c.1488G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1488G>A
  hgvsp: ENST00000394748.1:c.1488G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121270
  ensembl transcript: ENST00000567385
  gene symbol: ABCC11
  hgvsc: ENST00000567385.1:n.1886G>A
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1488G>A
  hgvsp: ENST00000356608.2:c.1488G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1488G>A
  hgvsp: ENST00000394747.1:c.1488G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 6659
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9072
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9160
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4290
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3434
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2299
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu496Glu
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

16-48244986-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48244986
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48244986
    reference: chr 16
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1481C>T
  hgvsp: ENSP00000311326.6:p.Ala494Val
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1481C>T
  hgvsp: ENSP00000378230.1:p.Ala494Val
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1481C>T
  hgvsp: ENSP00000349017.2:p.Ala494Val
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1481C>T
  hgvsp: ENSP00000378231.1:p.Ala494Val
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121270
  ensembl transcript: ENST00000567385
  gene symbol: ABCC11
  hgvsc: ENST00000567385.1:n.1879C>T
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1481C>T
  hgvsp: ENSP00000438530.1:p.Ala494Val
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7685
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9161
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6657
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3432
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3580
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4290
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12884
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala494Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

16-48244987-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48244987
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48244987
    reference: chr 16
allele count: 3
allele frequency: 2.471006852925672e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121270
  ensembl transcript: ENST00000567385
  gene symbol: ABCC11
  hgvsc: ENST00000567385.1:n.1878G>A
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1480G>A
  hgvsp: ENSP00000349017.2:p.Ala494Thr
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1480G>A
  hgvsp: ENSP00000311326.6:p.Ala494Thr
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1480G>A
  hgvsp: ENSP00000438530.1:p.Ala494Thr
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1480G>A
  hgvsp: ENSP00000378230.1:p.Ala494Thr
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1480G>A
  hgvsp: ENSP00000378231.1:p.Ala494Thr
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6657
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9160
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4291
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3580
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala494Thr
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

16-48244992-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48244992
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48244992
    reference: chr 16
allele count: 6
allele frequency: 4.941932295527551e-5
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1475A>G
  hgvsp: ENSP00000378230.1:p.Asn492Ser
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1475A>G
  hgvsp: ENSP00000311326.6:p.Asn492Ser
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1475A>G
  hgvsp: ENSP00000378231.1:p.Asn492Ser
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121270
  ensembl transcript: ENST00000567385
  gene symbol: ABCC11
  hgvsc: ENST00000567385.1:n.1873A>G
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1475A>G
  hgvsp: ENSP00000438530.1:p.Asn492Ser
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1475A>G
  hgvsp: ENSP00000349017.2:p.Asn492Ser
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6659
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9160
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8998
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8276
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3429
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2270
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2300
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4289
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn492Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

16-48244994-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48244994
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48244994
    reference: chr 16
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1473C>T
  hgvsp: ENST00000394747.1:c.1473C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1473C>T
  hgvsp: ENST00000353782.5:c.1473C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1473C>T
  hgvsp: ENST00000356608.2:c.1473C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1473C>T
  hgvsp: ENST00000537808.1:c.1473C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121270
  ensembl transcript: ENST00000567385
  gene symbol: ABCC11
  hgvsc: ENST00000567385.1:n.1871C>T
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1473C>T
  hgvsp: ENST00000394748.1:c.1473C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7679
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9069
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4329
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12880
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28346
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2300
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val491Val
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ

16-48244996-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48244996
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48244996
    reference: chr 16
allele count: 518
allele frequency: 4.266605166051661e-3
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121270
  ensembl transcript: ENST00000567385
  gene symbol: ABCC11
  hgvsc: ENST00000567385.1:n.1869G>A
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1471G>A
  hgvsp: ENSP00000378230.1:p.Val491Ile
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1471G>A
  hgvsp: ENSP00000349017.2:p.Val491Ile
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1471G>A
  hgvsp: ENSP00000378231.1:p.Val491Ile
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1471G>A
  hgvsp: ENSP00000438530.1:p.Val491Ile
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1471G>A
  hgvsp: ENSP00000311326.6:p.Val491Ile
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 6603
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 8956
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 9003
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 6.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 7627
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9102
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8220
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 9.75e1
  variant carriers: 324
genotype depth: GenotypeDepth
  all individuals: 4298
  bin: 5.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4255
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val491Ile
num of homozygotes: 5
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

16-48244997-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48244997
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48244997
    reference: chr 16
allele count: 8
allele frequency: 6.589460158476517e-5
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1470C>T
  hgvsp: ENST00000394747.1:c.1470C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1470C>T
  hgvsp: ENST00000394748.1:c.1470C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1470C>T
  hgvsp: ENST00000353782.5:c.1470C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1470C>T
  hgvsp: ENST00000356608.2:c.1470C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121270
  ensembl transcript: ENST00000567385
  gene symbol: ABCC11
  hgvsc: ENST00000567385.1:n.1868C>T
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1470C>T
  hgvsp: ENST00000537808.1:c.1470C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9043
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8984
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6648
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4333
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12906
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2294
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4286
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28378
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile490Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS

16-48245000-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245000
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48245000
    reference: chr 16
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1467G>A
  hgvsp: ENST00000353782.5:c.1467G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1467G>A
  hgvsp: ENST00000394748.1:c.1467G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1467G>A
  hgvsp: ENST00000537808.1:c.1467G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121270
  ensembl transcript: ENST00000567385
  gene symbol: ABCC11
  hgvsc: ENST00000567385.1:n.1865G>A
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1467G>A
  hgvsp: ENST00000394747.1:c.1467G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1467G>A
  hgvsp: ENST00000356608.2:c.1467G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6648
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4335
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3565
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12912
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly489Gly
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

16-48245001-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245001
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48245001
    reference: chr 16
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1466G>A
  hgvsp: ENSP00000378231.1:p.Gly489Glu
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1466G>A
  hgvsp: ENSP00000378230.1:p.Gly489Glu
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1466G>A
  hgvsp: ENSP00000311326.6:p.Gly489Glu
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121270
  ensembl transcript: ENST00000567385
  gene symbol: ABCC11
  hgvsc: ENST00000567385.1:n.1864G>A
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1466G>A
  hgvsp: ENSP00000438530.1:p.Gly489Glu
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1466G>A
  hgvsp: ENSP00000349017.2:p.Gly489Glu
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6648
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9041
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3414
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28375
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3565
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12910
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly489Glu
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD

16-48245002-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245002
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 48245002
    reference: chr 16
allele count: 9
allele frequency: 7.413020558777017e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000311326
  ensembl transcript: ENST00000353782
  gene symbol: ABCC11
  hgvsc: ENST00000353782.5:c.1465G>A
  hgvsp: ENSP00000311326.6:p.Gly489Arg
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000438530
  ensembl transcript: ENST00000537808
  gene symbol: ABCC11
  hgvsc: ENST00000537808.1:c.1465G>A
  hgvsp: ENSP00000438530.1:p.Gly489Arg
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000349017
  ensembl transcript: ENST00000356608
  gene symbol: ABCC11
  hgvsc: ENST00000356608.2:c.1465G>A
  hgvsp: ENSP00000349017.2:p.Gly489Arg
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378230
  ensembl transcript: ENST00000394747
  gene symbol: ABCC11
  hgvsc: ENST00000394747.1:c.1465G>A
  hgvsp: ENSP00000378230.1:p.Gly489Arg
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121270
  ensembl transcript: ENST00000567385
  gene symbol: ABCC11
  hgvsc: ENST00000567385.1:n.1863G>A
  variant of: http://identifiers.org/hgnc/14639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121270
  ensembl protein: ENSP00000378231
  ensembl transcript: ENST00000394748
  gene symbol: ABCC11
  hgvsc: ENST00000394748.1:c.1465G>A
  hgvsp: ENSP00000378231.1:p.Gly489Arg
  variant of: http://identifiers.org/hgnc/14639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8250
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4285
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12908
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3565
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly489Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
reference allele: C

GenotypeQuality
all individuals: 2948
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3477
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4067
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2244
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66614
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.885725278953444e-4
allele num: 10396
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 5.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

MQRankSum
type: SiteQuality
SIO_000300: -3.28e-1

QD
type: SiteQuality
SIO_000300: 1.576e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.558e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.77e-1

DP
type: SiteQuality
SIO_000300: 2.379564e6

GenotypeQuality
all individuals: 24
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2947
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5704
bin: 6.75e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001921229586936e-5
allele num: 66624
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.949e0

QD
type: SiteQuality
SIO_000300: 7.85e0

VQSLOD
type: SiteQuality
SIO_000300: -1.838e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-3

FS
type: SiteQuality
SIO_000300: 2.858e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.929999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.379985e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 2227
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23345
bin: 9.75e1
variant carriers: 462

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4354
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5674
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 24
allele frequency: 2.074330164217805e-3
allele num: 11570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

African
type: Population
allele count: 431
allele frequency: 4.145027889978842e-2
allele num: 10398
num of homozygotes: 5

South Asian
type: Population
allele count: 2
allele frequency: 1.212856276531231e-4
allele num: 16490
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.202643171806168e-3
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.20069640391427e-4
allele num: 66628
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.408406e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.87e0

FS
type: SiteQuality
SIO_000300: 5.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.91e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

QD
type: SiteQuality
SIO_000300: 1.391e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.643e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.01e-1

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

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

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2956
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14487
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5701
bin: 6.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.20069640391427e-4
allele num: 66628
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.88e-1

QD
type: SiteQuality
SIO_000300: 1.33e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.48e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.382713e6

MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.933e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.6e0

GenotypeQuality
all individuals: 4064
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2955
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4383
bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66628
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -2.46e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.52e-1

FS
type: SiteQuality
SIO_000300: 5.63e0

QD
type: SiteQuality
SIO_000300: 1.604e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.382429e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.592e0

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3469
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4064
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2955
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23124
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66628
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.592e0

MQRankSum
type: SiteQuality
SIO_000300: -2.46e-1

QD
type: SiteQuality
SIO_000300: 1.604e1

MQ
type: SiteQuality
SIO_000300: 5.958e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.15e-1

DP
type: SiteQuality
SIO_000300: 2.382429e6

VQSLOD
type: SiteQuality
SIO_000300: 4.81e-1

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4385
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14503
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2953
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66634
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.17e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

DP
type: SiteQuality
SIO_000300: 2.382353e6

MQRankSum
type: SiteQuality
SIO_000300: 4.28e-1

QD
type: SiteQuality
SIO_000300: 1.331e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.29e0

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

GenotypeQuality
all individuals: 4063
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 37
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23128
bin: 9.75e1
variant carriers: 4

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66638
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.886836027713626e-4
allele num: 10392
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.726e0

QD
type: SiteQuality
SIO_000300: 1.242e1

VQSLOD
type: SiteQuality
SIO_000300: 9.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.5e-2

DP
type: SiteQuality
SIO_000300: 2.382549e6

MQ
type: SiteQuality
SIO_000300: 5.98e1

GenotypeQuality
all individuals: 35
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4062
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4382
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23128
bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.212415130940834e-4
allele num: 16496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66636
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 8.869999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.89e-1

FS
type: SiteQuality
SIO_000300: 4.899e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.27e-1

DP
type: SiteQuality
SIO_000300: 2.382404e6

VQSLOD
type: SiteQuality
SIO_000300: 2.73e-1

GenotypeQuality
all individuals: 126
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4063
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23128
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14473
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.535833081342606e-4
allele num: 6614
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.502476361999099e-5
allele num: 66630
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.114e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.580000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.77e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

QD
type: SiteQuality
SIO_000300: 1.092e1

DP
type: SiteQuality
SIO_000300: 2.382822e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.79e-1

GenotypeQuality
all individuals: 114
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3726
bin: 8.25e1
variant carriers: 3

GenotypeQuality
all individuals: 13854
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 25542
bin: 9.75e1
variant carriers: 5823

GenotypeQuality
all individuals: 2759
bin: 7.25e1
variant carriers: 1

East Asian
type: Population
allele count: 2
allele frequency: 2.314814814814815e-4
allele num: 8640
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 369
allele frequency: 5.579074690051406e-2
allele num: 6614
num of homozygotes: 9

European (Non-Finnish)
type: Population
allele count: 4657
allele frequency: 6.986617858857418e-2
allele num: 66656
num of homozygotes: 184

Latino
type: Population
allele count: 476
allele frequency: 4.114799446749654e-2
allele num: 11568
num of homozygotes: 8

Other
type: Population
allele count: 66
allele frequency: 7.300884955752213e-2
allele num: 904
num of homozygotes: 2

South Asian
type: Population
allele count: 319
allele frequency: 1.934036619376743e-2
allele num: 16494
num of homozygotes: 8

African
type: Population
allele count: 161
allele frequency: 1.549566891241578e-2
allele num: 10390
num of homozygotes: 2

VQSLOD
type: SiteQuality
SIO_000300: 6.94e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.46e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.77e-1

QD
type: SiteQuality
SIO_000300: 1.43e1

MQRankSum
type: SiteQuality
SIO_000300: 1.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.49e-2

DP
type: SiteQuality
SIO_000300: 2.696787e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.73e-1

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2202
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4462
bin: 7.75e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 13
allele frequency: 1.123401313515382e-3
allele num: 11572
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500555205426008e-5
allele num: 66642
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.756e0

QD
type: SiteQuality
SIO_000300: 1.532e1

MQRankSum
type: SiteQuality
SIO_000300: 6.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.63e0

DP
type: SiteQuality
SIO_000300: 2.38027e6

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.88e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10390
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.50220608097968e-5
allele num: 66634
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -5.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.972e1

DP
type: SiteQuality
SIO_000300: 2.379799e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66636
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.379359e6

VQSLOD
type: SiteQuality
SIO_000300: 2.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.401e0

InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 2.486e0

QD
type: SiteQuality
SIO_000300: 1.124e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.579e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.19e0

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11568
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Other
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allele frequency: 0.0e0
allele num: 906
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South Asian
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.5008254539997e-5
allele num: 66630
num of homozygotes: 0

VQSLOD
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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QD
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MQ
type: SiteQuality
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ReadPosRankSum
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -2.6e-1

DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66624
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.1978e1

MQRankSum
type: SiteQuality
SIO_000300: 1.84e0

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-1

MQ
type: SiteQuality
SIO_000300: 5.847e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.558e0

VQSLOD
type: SiteQuality
SIO_000300: -2.083e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501095799933952e-5
allele num: 66618
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.825e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.763e0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.913e1

DP
type: SiteQuality
SIO_000300: 2.378075e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66614
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.070171178827243e-5
allele num: 16474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.962e0

MQ
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.885e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501456412720339e-5
allele num: 66602
num of homozygotes: 0

Other
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allele count: 0
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allele num: 906
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East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 1.501726986033939e-5
allele num: 66590
num of homozygotes: 0

South Asian
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Other
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allele num: 906
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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FS
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ReadPosRankSum
type: SiteQuality
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DP
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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European (Non-Finnish)
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Latino
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East Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6610
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South Asian
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MQRankSum
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BaseQRankSum
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VQSLOD
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FS
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Non-Finnish)
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South Asian
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African
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Other
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European (Finnish)
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East Asian
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InbreedingCoeff
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BaseQRankSum
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MQ
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MQRankSum
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DP
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VQSLOD
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FS
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QD
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16388
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.21e-1

QD
type: SiteQuality
SIO_000300: 1.141e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

FS
type: SiteQuality
SIO_000300: 1.021e0

DP
type: SiteQuality
SIO_000300: 2.367046e6

MQRankSum
type: SiteQuality
SIO_000300: 1.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.63e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 504
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4358
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4042
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2191
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

African
type: Population
allele count: 13
allele frequency: 1.253374469726186e-3
allele num: 10372
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66434
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16302
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.959e1

FS
type: SiteQuality
SIO_000300: 1.707e0

MQRankSum
type: SiteQuality
SIO_000300: 3.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

DP
type: SiteQuality
SIO_000300: 2.344988e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.969e0

QD
type: SiteQuality
SIO_000300: 1.29e1

GenotypeQuality
all individuals: 2147
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 4303
bin: 7.75e1
variant carriers: 7

GenotypeQuality
all individuals: 22794
bin: 9.75e1
variant carriers: 952

GenotypeQuality
all individuals: 117
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 336
bin: 5.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.80908158957969e-4
allele num: 66332
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.325942350332594e-3
allele num: 902
num of homozygotes: 0

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

Latino
type: Population
allele count: 43
allele frequency: 3.73328702899809e-3
allele num: 11518
num of homozygotes: 1

African
type: Population
allele count: 958
allele frequency: 9.257827599536142e-2
allele num: 10348
num of homozygotes: 42

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.231982259455464e-4
allele num: 16234
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.48e0

QD
type: SiteQuality
SIO_000300: 1.545e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.88e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.67e0

DP
type: SiteQuality
SIO_000300: 2.330024e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e-1

GenotypeQuality
all individuals: 414
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4353
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22330
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2775
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5033
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.161429451632779e-5
allele num: 16230
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66324
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.88e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.727e1

VQSLOD
type: SiteQuality
SIO_000300: 3.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

DP
type: SiteQuality
SIO_000300: 2.32843e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e-1

GenotypeQuality
all individuals: 41
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3454
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28219
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 980
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3508
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66170
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.474168069403081e-5
allele num: 15446
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

QD
type: SiteQuality
SIO_000300: 1.204e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.064e0

FS
type: SiteQuality
SIO_000300: 1.6347e1

VQSLOD
type: SiteQuality
SIO_000300: -2.265e0

DP
type: SiteQuality
SIO_000300: 2.297799e6

GenotypeQuality
all individuals: 40
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28241
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 3523
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9851
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66204
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.411900487304436e-5
allele num: 15596
num of homozygotes: 0

African
type: Population
allele count: 10
allele frequency: 9.646922631680494e-4
allele num: 10366
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -6.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.88e-1

QD
type: SiteQuality
SIO_000300: 1.191e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 2.31073e6

GenotypeQuality
all individuals: 173
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 872
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3322
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3524
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2259
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10277
bin: 6.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15606
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.020418025854778e-5
allele num: 66216
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.244e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.98e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.2e-2

MQ
type: SiteQuality
SIO_000300: 5.957e1

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.96e-1

DP
type: SiteQuality
SIO_000300: 2.317286e6

GenotypeQuality
all individuals: 43
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3518
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11468
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2267
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3352
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 2.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.730702665282105e-4
allele num: 11556
num of homozygotes: 0

East Asian
type: Population
allele count: 26
allele frequency: 3.012048192771084e-3
allele num: 8632
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66346
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15918
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.36e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 1.919e0

QD
type: SiteQuality
SIO_000300: 1.426e1

VQSLOD
type: SiteQuality
SIO_000300: 4.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.67e-1

DP
type: SiteQuality
SIO_000300: 2.332273e6

GenotypeQuality
all individuals: 2267
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3528
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3518
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28293
bin: 9.75e1
variant carriers: 43

GenotypeQuality
all individuals: 106
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11468
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 22
allele frequency: 3.337378640776699e-3
allele num: 6592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.808699846260513e-4
allele num: 66346
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.2271714922049e-3
allele num: 898
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15918
num of homozygotes: 0

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

East Asian
type: Population
allele count: 7
allele frequency: 8.109360518999073e-4
allele num: 8632
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.36e-1

DP
type: SiteQuality
SIO_000300: 2.332273e6

FS
type: SiteQuality
SIO_000300: 1.919e0

MQRankSum
type: SiteQuality
SIO_000300: 1.67e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.94e-1

QD
type: SiteQuality
SIO_000300: 1.426e1

GenotypeQuality
all individuals: 289
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11451
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2274
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28284
bin: 9.75e1
variant carriers: 27

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66354
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15938
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.730403183941858e-4
allele num: 11558
num of homozygotes: 0

East Asian
type: Population
allele count: 26
allele frequency: 3.012048192771084e-3
allele num: 8632
num of homozygotes: 1

QD
type: SiteQuality
SIO_000300: 1.654e1

DP
type: SiteQuality
SIO_000300: 2.334833e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.38e-1

FS
type: SiteQuality
SIO_000300: 5.649999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.66e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.95e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

GenotypeQuality
all individuals: 3353
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2181
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3533
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28284
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3529
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4027
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.274312962730582e-5
allele num: 15938
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.628345850182938e-5
allele num: 10386
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.237136465324385e-3
allele num: 894
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66354
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.0e-2

DP
type: SiteQuality
SIO_000300: 2.334833e6

QD
type: SiteQuality
SIO_000300: 1.654e1

VQSLOD
type: SiteQuality
SIO_000300: 3.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.66e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.95e-1

FS
type: SiteQuality
SIO_000300: 5.649999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

GenotypeQuality
all individuals: 546
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3367
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3536
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2193
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variant carriers: 0

GenotypeQuality
all individuals: 11780
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28280
bin: 9.75e1
variant carriers: 6

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.024822267743102e-5
allele num: 66392
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.248439450686642e-4
allele num: 16020
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.41e0

DP
type: SiteQuality
SIO_000300: 2.337389e6

MQ
type: SiteQuality
SIO_000300: 5.959e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.334e-1

QD
type: SiteQuality
SIO_000300: 7.53e0

GenotypeQuality
all individuals: 348
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2226
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3548
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16236
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66490
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.17e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.397e0

QD
type: SiteQuality
SIO_000300: 1.541e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.37e-1

DP
type: SiteQuality
SIO_000300: 2.346208e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.598e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.83e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.34e0

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

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

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 348
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3548
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.015942246954429e-5
allele num: 66490
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16236
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.598e1

DP
type: SiteQuality
SIO_000300: 2.346208e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.83e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.37e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.397e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.541e1

GenotypeQuality
all individuals: 2235
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3562
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3551
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502855425308085e-5
allele num: 66540
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.287e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.82e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.94e-1

DP
type: SiteQuality
SIO_000300: 2.351566e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.748e0

FS
type: SiteQuality
SIO_000300: 4.861e0

VQSLOD
type: SiteQuality
SIO_000300: 2.16e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

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

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3556
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4208
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502358703163967e-5
allele num: 66562
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 4.89e-1

FS
type: SiteQuality
SIO_000300: 3.747e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.074e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.52e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.49e-1

DP
type: SiteQuality
SIO_000300: 2.35287e6

QD
type: SiteQuality
SIO_000300: 9.640000000000001e0

GenotypeQuality
all individuals: 4230
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
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variant carriers: 0

GenotypeQuality
all individuals: 3397
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 28291
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2289
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3550
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.003093185981561e-5
allele num: 66598
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.182e0

VQSLOD
type: SiteQuality
SIO_000300: 2.92e-1

QD
type: SiteQuality
SIO_000300: 1.065e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.37e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -6.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.51e0

DP
type: SiteQuality
SIO_000300: 2.354853e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.93e-1

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

GenotypeQuality
all individuals: 3553
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 28309
bin: 9.75e1
variant carriers: 26

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 24
allele frequency: 2.307692307692308e-3
allele num: 10400
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.728309713100588e-4
allele num: 11572
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 2.359454e6

VQSLOD
type: SiteQuality
SIO_000300: 2.42e0

FS
type: SiteQuality
SIO_000300: 1.097e0

MQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

QD
type: SiteQuality
SIO_000300: 1.344e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.82e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.358801e6

MQRankSum
type: SiteQuality
SIO_000300: -3.9e-2

FS
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

VQSLOD
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BaseQRankSum
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SIO_000300: 2.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 9.52e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 44

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49842555105713e-5
allele num: 66690
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

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

African
type: Population
allele count: 40
allele frequency: 3.846153846153846e-3
allele num: 10400
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.969e1

QD
type: SiteQuality
SIO_000300: 1.233e1

DP
type: SiteQuality
SIO_000300: 2.359872e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.56e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.43e-1

FS
type: SiteQuality
SIO_000300: 5.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.232e0

VQSLOD
type: SiteQuality
SIO_000300: 4.11e0

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

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

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

South Asian
type: Population
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allele frequency: 0.0e0
allele num: 16512
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Latino
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allele frequency: 0.0e0
allele num: 11572
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

Other
type: Population
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allele num: 908
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.9e-2

QD
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 1.009e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
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BaseQRankSum
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 13
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GenotypeQuality
all individuals: 4283
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variant carriers: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

African
type: Population
allele count: 25
allele frequency: 2.403383964622188e-3
allele num: 10402
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-3

FS
type: SiteQuality
SIO_000300: 1.094e0

VQSLOD
type: SiteQuality
SIO_000300: 3.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.09e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 1.4e1

DP
type: SiteQuality
SIO_000300: 2.361129e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.75e-1

GenotypeQuality
all individuals: 3418
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3569
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 5

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.625346901017577e-4
allele num: 8648
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

DP
type: SiteQuality
SIO_000300: 2.361292e6

MQRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.59e0

QD
type: SiteQuality
SIO_000300: 1.377e1

GenotypeQuality
all individuals: 3416
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
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GenotypeQuality
all individuals: 3575
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.36e1

DP
type: SiteQuality
SIO_000300: 2.361749e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

FS
type: SiteQuality
SIO_000300: 7.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.932e1

VQSLOD
type: SiteQuality
SIO_000300: 7.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.3e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.802e0

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

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 1.581e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.84e0

MQRankSum
type: SiteQuality
SIO_000300: -2.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.062e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

QD
type: SiteQuality
SIO_000300: 1.319e1

MQ
type: SiteQuality
SIO_000300: 5.947e1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

DP
type: SiteQuality
SIO_000300: 2.361808e6

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

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 3568
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.004e0

FS
type: SiteQuality
SIO_000300: 3.694e0

VQSLOD
type: SiteQuality
SIO_000300: -1.3e0

MQRankSum
type: SiteQuality
SIO_000300: -2.16e-1

QD
type: SiteQuality
SIO_000300: 9.289999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.886e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.85e-1

DP
type: SiteQuality
SIO_000300: 2.362082e6

GenotypeQuality
all individuals: 28318
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12821
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 2294
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3425
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

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

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.085e0

FS
type: SiteQuality
SIO_000300: 1.107e0

QD
type: SiteQuality
SIO_000300: 1.486e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.17e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.97e0

DP
type: SiteQuality
SIO_000300: 2.362529e6

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

GenotypeQuality
all individuals: 2262
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 2294
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3572
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 3571
bin: 9.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.994485073732166e-5
allele num: 66728
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 4
allele frequency: 2.422480620155039e-4
allele num: 16512
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.486e1

DP
type: SiteQuality
SIO_000300: 2.362529e6

FS
type: SiteQuality
SIO_000300: 1.107e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.97e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.085e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.17e-1

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 28320
bin: 9.75e1
variant carriers: 4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3569
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997422216893472e-5
allele num: 66724
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.34e1

MQRankSum
type: SiteQuality
SIO_000300: -1.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

DP
type: SiteQuality
SIO_000300: 2.362761e6

FS
type: SiteQuality
SIO_000300: 1.747e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.57e0

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 28320
bin: 9.75e1
variant carriers: 3

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.496133325340207e-5
allele num: 66724
num of homozygotes: 0

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

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

QD
type: SiteQuality
SIO_000300: 1.34e1

MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

MQRankSum
type: SiteQuality
SIO_000300: -1.92e-1

DP
type: SiteQuality
SIO_000300: 2.362761e6

FS
type: SiteQuality
SIO_000300: 1.747e0

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.73e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 17
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GenotypeQuality
all individuals: 13
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.27e-1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.8e-1

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 2.64e-1

FS
type: SiteQuality
SIO_000300: 1.865e0

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.31e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 12
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.99e-1

QD
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-1

FS
type: SiteQuality
SIO_000300: 2.142e0

MQRankSum
type: SiteQuality
SIO_000300: 4.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.363315e6

BaseQRankSum
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SIO_000300: -5.201e0

VQSLOD
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SIO_000300: 1.5e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 15
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.38e-1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.224e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.72e-1

MQ
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -9.0e-2

QD
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DP
type: SiteQuality
SIO_000300: 2.363553e6

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

GenotypeQuality
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variant carriers: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.564e0

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

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.363664e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.411e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 6.43e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

FS
type: SiteQuality
SIO_000300: 1.959e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.624e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.98e-1

QD
type: SiteQuality
SIO_000300: 1.156e1

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

DP
type: SiteQuality
SIO_000300: 2.363699e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.363803e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.336e0

QD
type: SiteQuality
SIO_000300: 1.644e1

FS
type: SiteQuality
SIO_000300: 1.0145e1

MQ
type: SiteQuality
SIO_000300: 5.98e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.86e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.71e-1

GenotypeQuality
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variant carriers: 0

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

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.728309713100588e-4
allele num: 11572
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8650
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.92e1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.31e-1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.761e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
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South Asian
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African
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VQSLOD
type: SiteQuality
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BaseQRankSum
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MQ
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QD
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FS
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DP
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

Other
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East Asian
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allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
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Latino
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allele frequency: 3.456619426201175e-4
allele num: 11572
num of homozygotes: 0

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

QD
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MQ
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ClippingRankSum
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MQRankSum
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DP
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BaseQRankSum
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FS
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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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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allele frequency: 4.495055439017081e-5
allele num: 66740
num of homozygotes: 0

QD
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
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MQRankSum
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BaseQRankSum
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FS
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66736
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African
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European (Finnish)
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South Asian
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Latino
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Other
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East Asian
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QD
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MQRankSum
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FS
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ClippingRankSum
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VQSLOD
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DP
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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allele frequency: 9.611687812379854e-4
allele num: 10404
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East Asian
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Other
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European (Non-Finnish)
type: Population
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Latino
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allele frequency: 1.727414061150458e-4
allele num: 11578
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.365293e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.52e-1

FS
type: SiteQuality
SIO_000300: 5.35e-1

BaseQRankSum
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SIO_000300: -4.455e0

VQSLOD
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SIO_000300: 3.79e0

MQ
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SIO_000300: 5.977e1

MQRankSum
type: SiteQuality
SIO_000300: 4.05e-1

QD
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SIO_000300: 1.325e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66740
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East Asian
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allele frequency: 1.155802126675913e-4
allele num: 8652
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Latino
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 908
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South Asian
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allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 5.97e0

MQRankSum
type: SiteQuality
SIO_000300: -6.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -8.279999999999999e0

DP
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QD
type: SiteQuality
SIO_000300: 1.015e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.049e0

VQSLOD
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SIO_000300: 6.08e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.3e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 10406
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

South Asian
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allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.96e-1

ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: -3.983e0

FS
type: SiteQuality
SIO_000300: 1.5707e1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

South Asian
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allele count: 6
allele frequency: 3.633720930232558e-4
allele num: 16512
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.365157e6

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
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SIO_000300: 1.29e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.02e-1

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.902e0

MQRankSum
type: SiteQuality
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DP
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VQSLOD
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SIO_000300: -6.58e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.387e0

QD
type: SiteQuality
SIO_000300: 1.173e1

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 513

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.198681450404555e-4
allele num: 66740
num of homozygotes: 0

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

South Asian
type: Population
allele count: 47
allele frequency: 2.84641472868217e-3
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 26
allele frequency: 2.246026261230131e-3
allele num: 11576
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.202643171806168e-3
allele num: 908
num of homozygotes: 0

African
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allele count: 434
allele frequency: 4.17067076686527e-2
allele num: 10406
num of homozygotes: 5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.63e-2

DP
type: SiteQuality
SIO_000300: 2.400097e6

VQSLOD
type: SiteQuality
SIO_000300: 4.7e0

FS
type: SiteQuality
SIO_000300: 5.54e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.85e-1

BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.978e1

QD
type: SiteQuality
SIO_000300: 1.371e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.76e-1

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

European (Non-Finnish)
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allele count: 4
allele frequency: 5.993586862057598e-5
allele num: 66738
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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allele count: 0
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Latino
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allele frequency: 3.455425017277125e-4
allele num: 11576
num of homozygotes: 0

South Asian
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 908
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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VQSLOD
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BaseQRankSum
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QD
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MQRankSum
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DP
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MQ
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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East Asian
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Latino
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European (Non-Finnish)
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allele count: 1
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allele num: 66740
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European (Finnish)
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African
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ClippingRankSum
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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QD
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FS
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ReadPosRankSum
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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European (Finnish)
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African
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Latino
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East Asian
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European (Non-Finnish)
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ReadPosRankSum
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MQ
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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DP
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FS
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 6.046993780234969e-4
allele num: 11576
num of homozygotes: 0

East Asian
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European (Finnish)
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allele count: 0
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Other
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European (Non-Finnish)
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African
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