2-215865531-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215865531
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215865531
    reference: chr 2
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.2123A>C
  hgvsp: ENSP00000374312.4:p.Asp708Ala
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.3077A>C
  hgvsp: ENSP00000272895.7:p.Asp1026Ala
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5700
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27582
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2457
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17350
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp1026Ala
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

2-215865540-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215865540
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215865540
    reference: chr 2
allele count: 2
allele frequency: 1.64774506088418e-5
allele num: 121378
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.3068A>G
  hgvsp: ENSP00000272895.7:p.Tyr1023Cys
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.2114A>G
  hgvsp: ENSP00000374312.4:p.Tyr705Cys
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11490
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 10
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2154
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Tyr1023Cys
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP

2-215865544-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215865544
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215865544
    reference: chr 2
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.2110A>G
  hgvsp: ENSP00000374312.4:p.Ile704Val
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.3064A>G
  hgvsp: ENSP00000272895.7:p.Ile1022Val
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5704
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 240
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2458
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  variant carriers: 0
hgvs: p.Ile1022Val
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-215865567-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215865567
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215865567
    reference: chr 2
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.2087A>G
  hgvsp: ENSP00000374312.4:p.Asn696Ser
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.3041A>G
  hgvsp: ENSP00000272895.7:p.Asn1014Ser
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2025
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 1142
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genotype depth: GenotypeDepth
  all individuals: 1329
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn1014Ser
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11566
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff

2-215865573-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215865573
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215865573
    reference: chr 2
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.3035C>T
  hgvsp: ENSP00000272895.7:p.Ser1012Leu
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.2081C>T
  hgvsp: ENSP00000374312.4:p.Ser694Leu
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11496
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4335
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8487
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27620
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5823
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 2457
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2157
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1814
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17347
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser1012Leu
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16510
  num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

2-215865575-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215865575
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215865575
    reference: chr 2
allele count: 28298
allele frequency: 2.33131765830189e-1
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.2079A>G
  hgvsp: ENST00000389661.4:c.2079A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.3033A>G
  hgvsp: ENST00000272895.7:c.3033A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.25e1
  variant carriers: 227
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 3.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 4.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 17658
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 109
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 123
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7766
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 6553
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 226
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  variant carriers: 167
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 253
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  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 184
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.25e1
  variant carriers: 255
genotype depth: GenotypeDepth
  all individuals: 23086
  bin: 9.75e1
  variant carriers: 22958
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.75e1
  variant carriers: 253
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 350
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4712
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 25776
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  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 501
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 4
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genotype quality: GenotypeQuality
  all individuals: 1173
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26366
  bin: 9.75e1
  variant carriers: 24536
hgvs: p.Pro1011Pro
num of homozygotes: 3752
population: European (Non-Finnish)
  type: Population
  allele count: 17281
  allele frequency: 2.589456964756653e-1
  allele num: 66736
  num of homozygotes: 2268
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

2-215865576-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215865576
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215865576
    reference: chr 2
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.2078C>T
  hgvsp: ENSP00000374312.4:p.Pro693Leu
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.3032C>T
  hgvsp: ENSP00000272895.7:p.Pro1011Leu
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
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genotype depth: GenotypeDepth
  all individuals: 3
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genotype depth: GenotypeDepth
  all individuals: 3176
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 13821
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 43119
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
hgvs: p.Pro1011Leu
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

2-215865582-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215865582
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215865582
    reference: chr 2
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.2072A>G
  hgvsp: ENSP00000374312.4:p.Asn691Ser
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.3026A>G
  hgvsp: ENSP00000272895.7:p.Asn1009Ser
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30240
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
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genotype depth: GenotypeDepth
  all individuals: 155
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genotype depth: GenotypeDepth
  all individuals: 4
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genotype depth: GenotypeDepth
  all individuals: 9673
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
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genotype depth: GenotypeDepth
  all individuals: 267
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genotype depth: GenotypeDepth
  all individuals: 1506
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genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 549
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1788
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
hgvs: p.Asn1009Ser
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.155535012710885e-4
  allele num: 8654
  num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

2-215865587-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215865587
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215865587
    reference: chr 2
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.3021A>G
  hgvsp: ENST00000272895.7:c.3021A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.2067A>G
  hgvsp: ENST00000389661.4:c.2067A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43122
  bin: 6.25e1
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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: 8164
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2009
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2988
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro1007Pro
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16510
  num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

2-215865587-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215865587
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215865586
    reference: chr 2
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.3020delC
  hgvsp: ENSP00000272895.7:p.Pro1007HisfsTer38
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.2066delC
  hgvsp: ENSP00000374312.4:p.Pro689HisfsTer38
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9672
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genotype depth: GenotypeDepth
  all individuals: 90
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genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13826
  bin: 3.25e1
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genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3172
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 2988
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2009
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 550
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genotype quality: GenotypeQuality
  all individuals: 1275
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 43122
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genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro1007HisfsTer38
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11564
  num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: TG
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

2-215865606-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215865606
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215865606
    reference: chr 2
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.2048A>C
  hgvsp: ENSP00000374312.4:p.Lys683Thr
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.3002A>C
  hgvsp: ENSP00000272895.7:p.Lys1001Thr
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30247
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1789
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 5
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genotype quality: GenotypeQuality
  all individuals: 5
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys1001Thr
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

2-215865609-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215865609
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215865609
    reference: chr 2
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2999C>T
  hgvsp: ENSP00000272895.7:p.Thr1000Ile
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.2045C>T
  hgvsp: ENSP00000374312.4:p.Thr682Ile
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30247
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 9667
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
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genotype depth: GenotypeDepth
  all individuals: 13820
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 43
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genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2985
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 43111
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr1000Ile
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16508
  num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

2-215865610-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215865610
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215865610
    reference: chr 2
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.2044A>G
  hgvsp: ENSP00000374312.4:p.Thr682Ala
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2998A>G
  hgvsp: ENSP00000272895.7:p.Thr1000Ala
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9667
  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 450
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13820
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8159
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2006
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1785
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43107
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2983
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr1000Ala
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11568
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

2-215865617-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215865617
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215865617
    reference: chr 2
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2991C>G
  hgvsp: ENSP00000272895.7:p.Ser997Arg
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.2037C>G
  hgvsp: ENSP00000374312.4:p.Ser679Arg
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13816
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1787
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2981
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8156
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2009
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43110
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser997Arg
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP

2-215865624-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215865624
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215865624
    reference: chr 2
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.2030C>G
  hgvsp: ENSP00000374312.4:p.Thr677Arg
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2984C>G
  hgvsp: ENSP00000272895.7:p.Thr995Arg
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1782
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2009
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2980
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr995Arg
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

2-215865631-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215865631
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215865631
    reference: chr 2
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.2023C>T
  hgvsp: ENSP00000374312.4:p.Gln675Ter
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2977C>T
  hgvsp: ENSP00000272895.7:p.Gln993Ter
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13805
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
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genotype depth: GenotypeDepth
  all individuals: 51
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43088
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln993Ter
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66728
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

2-215865635-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215865635
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215865635
    reference: chr 2
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2973C>T
  hgvsp: ENST00000272895.7:c.2973C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.2019C>T
  hgvsp: ENST00000389661.4:c.2019C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13796
  bin: 3.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2004
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8143
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr991Thr
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6610
  num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP

2-215865635-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215865635
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215865635
    reference: chr 2
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2973C>A
  hgvsp: ENST00000272895.7:c.2973C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.2019C>A
  hgvsp: ENST00000389661.4:c.2019C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2976
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2004
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 547
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 10
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genotype quality: GenotypeQuality
  all individuals: 8143
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr991Thr
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.058403004967891e-5
  allele num: 16506
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS

2-215865641-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215865641
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215865641
    reference: chr 2
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.2013C>G
  hgvsp: ENST00000389661.4:c.2013C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2967C>G
  hgvsp: ENST00000272895.7:c.2967C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
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genotype depth: GenotypeDepth
  all individuals: 30240
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13793
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2005
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 8144
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 780
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genotype quality: GenotypeQuality
  all individuals: 2973
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu989Leu
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66724
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

2-215865645-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215865645
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215865645
    reference: chr 2
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.2009G>A
  hgvsp: ENSP00000374312.4:p.Ser670Asn
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2963G>A
  hgvsp: ENSP00000272895.7:p.Ser988Asn
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13783
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 447
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2969
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 777
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2002
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  variant carriers: 0
hgvs: p.Ser988Asn
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10392
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

2-215865651-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215865651
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215865651
    reference: chr 2
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.2003G>A
  hgvsp: ENSP00000374312.4:p.Arg668Gln
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2957G>A
  hgvsp: ENSP00000272895.7:p.Arg986Gln
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9654
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg986Gln
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16506
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-215865652-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215865652
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215865652
    reference: chr 2
allele count: 2
allele frequency: 1.648587160803192e-5
allele num: 121316
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2956C>T
  hgvsp: ENSP00000272895.7:p.Arg986Trp
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.2002C>T
  hgvsp: ENSP00000374312.4:p.Arg668Trp
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2002
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8135
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1768
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2968
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 43035
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg986Trp
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16502
  num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

2-215865658-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215865658
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215865658
    reference: chr 2
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2950A>G
  hgvsp: ENSP00000272895.7:p.Thr984Ala
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1996A>G
  hgvsp: ENSP00000374312.4:p.Thr666Ala
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3137
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43035
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2000
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1766
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8120
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2965
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Thr984Ala
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.058403004967891e-5
  allele num: 16506
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum

2-215865659-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215865659
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215865659
    reference: chr 2
allele count: 38
allele frequency: 3.1323672453303e-4
allele num: 121314
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2949T>C
  hgvsp: ENST00000272895.7:c.2949T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1995T>C
  hgvsp: ENST00000389661.4:c.1995T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13758
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3132
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30222
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8111
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1995
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43008
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genotype quality: GenotypeQuality
  all individuals: 17
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genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 2980
  bin: 9.75e1
  variant carriers: 38
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 772
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genotype quality: GenotypeQuality
  all individuals: 536
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1763
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Tyr983Tyr
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 8.658008658008658e-5
  allele num: 11550
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-215865662-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215865662
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215865662
    reference: chr 2
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1992A>C
  hgvsp: ENSP00000374312.4:p.Lys664Asn
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2946A>C
  hgvsp: ENSP00000272895.7:p.Lys982Asn
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13758
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8109
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 775
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 19
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2943
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1762
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43040
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys982Asn
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6610
  num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

2-215865663-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215865663
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215865663
    reference: chr 2
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2945A>T
  hgvsp: ENSP00000272895.7:p.Lys982Ile
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1991A>T
  hgvsp: ENSP00000374312.4:p.Lys664Ile
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13751
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2956
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43044
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1764
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1995
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8106
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys982Ile
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11548
  num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

2-215865663-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215865663
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215865663
    reference: chr 2
allele count: 60
allele frequency: 4.94649540800343e-4
allele num: 121298
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1991A>C
  hgvsp: ENSP00000374312.4:p.Lys664Thr
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2945A>C
  hgvsp: ENSP00000272895.7:p.Lys982Thr
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13751
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9666
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43044
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
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genotype quality: GenotypeQuality
  all individuals: 1764
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1995
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2956
  bin: 9.75e1
  variant carriers: 59
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8106
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 770
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 19
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys982Thr
num of homozygotes: 1
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6610
  num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

2-215865666-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215865666
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215865666
    reference: chr 2
allele count: 2
allele frequency: 1.649076517150396e-5
allele num: 121280
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1988T>C
  hgvsp: ENSP00000374312.4:p.Ile663Thr
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2942T>C
  hgvsp: ENSP00000272895.7:p.Ile981Thr
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13762
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9669
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2897
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 16
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
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genotype quality: GenotypeQuality
  all individuals: 106
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genotype quality: GenotypeQuality
  all individuals: 1765
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1994
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ile981Thr
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 2.998231043684226e-5
  allele num: 66706
  num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

2-215865692-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215865692
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215865692
    reference: chr 2
allele count: 1
allele frequency: 8.256683785524381e-6
allele num: 121114
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1962T>C
  hgvsp: ENST00000389661.4:c.1962T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2916T>C
  hgvsp: ENST00000272895.7:c.2916T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2891
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 525
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 260
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1749
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genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 5
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genotype quality: GenotypeQuality
  all individuals: 42988
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 763
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genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser972Ser
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.513775355737209e-4
  allele num: 6606
  num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

2-215865703-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215865703
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215865703
    reference: chr 2
allele count: 1
allele frequency: 8.266922390132602e-6
allele num: 120964
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2905G>A
  hgvsp: ENSP00000272895.7:p.Gly969Ser
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1951G>A
  hgvsp: ENSP00000374312.4:p.Gly651Ser
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3091
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
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genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9572
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1988
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1739
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
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genotype quality: GenotypeQuality
  all individuals: 762
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8063
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42944
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 354
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2886
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly969Ser
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11512
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS

2-215865728-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215865728
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215865728
    reference: chr 2
allele count: 1
allele frequency: 8.337085021593051e-6
allele num: 119946
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1926T>A
  hgvsp: ENST00000389661.4:c.1926T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2880T>A
  hgvsp: ENST00000272895.7:c.2880T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29873
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
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genotype depth: GenotypeDepth
  all individuals: 87
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genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 13487
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
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genotype quality: GenotypeQuality
  all individuals: 2881
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 1946
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genotype quality: GenotypeQuality
  all individuals: 518
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1692
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genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu960Leu
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 900
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/2-215865740-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215865740
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215865740
    reference: chr 2
allele count: 194
allele frequency: 1.632089916376424e-3
allele num: 118866
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2868T>G
  hgvsp: ENST00000272895.7:c.2868T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1914T>G
  hgvsp: ENST00000389661.4:c.1914T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 85
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 775
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  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 260
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 4.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 51
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  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13143
  bin: 3.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 502
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genotype quality: GenotypeQuality
  all individuals: 1988
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 23
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genotype quality: GenotypeQuality
  all individuals: 746
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2948
  bin: 9.75e1
  variant carriers: 193
hgvs: p.Val956Val
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 172
  allele frequency: 2.620752704555843e-3
  allele num: 65630
  num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

2-215865742-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215865742
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215865742
    reference: chr 2
allele count: 4
allele frequency: 3.366096674296486e-5
allele num: 118832
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2866G>A
  hgvsp: ENSP00000272895.7:p.Val956Ile
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1912G>A
  hgvsp: ENSP00000374312.4:p.Val638Ile
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13142
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 1.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 53
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genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 503
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7631
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2763
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  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2013
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val956Ile
num of homozygotes: 1
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

2-215865743-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215865743
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215865743
    reference: chr 2
allele count: 1
allele frequency: 8.429855175088092e-6
allele num: 118626
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2865T>C
  hgvsp: ENST00000272895.7:c.2865T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1911T>C
  hgvsp: ENST00000389661.4:c.1911T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8899
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.25e1
  variant carriers: 0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: c.2865T>C
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/2-215865745-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215865745
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215865745
    reference: chr 2
allele count: 1
allele frequency: 8.438960995122281e-6
allele num: 118498
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1910-1G>T
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2864-1G>T
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: c.2864-1G>T
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.529519730804527e-5
  allele num: 65380
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
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2-215865748-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215865748
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215865748
    reference: chr 2
allele count: 1
allele frequency: 8.457804015765346e-6
allele num: 118234
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2864-4T>C
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1910-4T>C
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: c.2864-4T>C
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 65232
  num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

2-215865750-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215865750
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215865750
    reference: chr 2
allele count: 2
allele frequency: 1.69606512890095e-5
allele num: 117920
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1910-6T>A
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2864-6T>A
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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hgvs: c.2864-6T>A
num of homozygotes: 0
population: South Asian
  type: Population
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  allele frequency: 0.0e0
  allele num: 16318
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
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site quality: FS
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site quality: ClippingRankSum
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site quality: InbreedingCoeff

2-215865759-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215865759
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215865759
    reference: chr 2
allele count: 1
allele frequency: 8.639308855291577e-6
allele num: 115750
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2864-15C>A
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1910-15C>A
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9362
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

2-215865768-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215865768
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215865768
    reference: chr 2
allele count: 1
allele frequency: 8.744316194473592e-6
allele num: 114360
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2864-24C>T
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1910-24C>T
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 4.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2842
  bin: 7.5e0
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16074
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD

2-215865771-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215865771
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215865771
    reference: chr 2
allele count: 2
allele frequency: 1.755833757659825e-5
allele num: 113906
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1910-27C>T
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2864-27C>T
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6444
  num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ

2-215865787-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215865787
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215865787
    reference: chr 2
allele count: 1
allele frequency: 9.111783358238875e-6
allele num: 109748
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1910-43C>T
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2864-43C>T
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 850
  num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-215865788-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215865788
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215865788
    reference: chr 2
allele count: 3
allele frequency: 2.752798678656634e-5
allele num: 108980
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2864-44A>T
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1910-44A>T
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7410
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

2-215865788-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215865788
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215865788
    reference: chr 2
allele count: 1
allele frequency: 9.175995595522114e-6
allele num: 108980
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2864-44A>G
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1910-44A>G
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16418
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3861
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6724
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2714
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 846
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

2-215865792-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215865792
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215865792
    reference: chr 2
allele count: 1
allele frequency: 9.313415043027977e-6
allele num: 107372
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1910-48G>C
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2864-48G>C
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14155
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3525
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8532
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8379
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 924
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  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8690
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD

2-215865792-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215865792
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215865792
    reference: chr 2
allele count: 9
allele frequency: 8.382073538725179e-5
allele num: 107372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1910-48G>A
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2864-48G>A
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9550
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
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genotype depth: GenotypeDepth
  all individuals: 47
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16237
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14155
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5699
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2493
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8379
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genotype quality: GenotypeQuality
  all individuals: 5779
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genotype quality: GenotypeQuality
  all individuals: 2717
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 1141
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1008
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num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6294
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

2-215865793-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215865793
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215865793
    reference: chr 2
allele count: 2
allele frequency: 1.909781902906688e-5
allele num: 104724
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1910-49C>T
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2864-49C>T
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5211
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 250
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1955
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2710
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num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.535093451836362e-5
  allele num: 15302
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-215866235-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215866235
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215866235
    reference: chr 2
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2863+47T>G
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1909+47T>G
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10400
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/2-215866245-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215866245
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215866245
    reference: chr 2
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1909+37G>T
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2863+37G>T
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6612
  num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
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site quality: DP
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site quality: VQSLOD
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2-215866267-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215866267
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215866267
    reference: chr 2
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1909+15A>G
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2863+15A>G
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 935
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
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site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
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site quality: BaseQRankSum
site quality: FS
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http://identifiers.org/exac.variant/2-215866272-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215866272
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215866272
    reference: chr 2
allele count: 2
allele frequency: 1.648206751054852e-5
allele num: 121344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1909+10G>T
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2863+10G>T
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  type: Population
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  allele num: 6612
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population: Other
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population: South Asian
population: African
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population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
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site quality: InbreedingCoeff
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2-215866272-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215866272
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215866272
    reference: chr 2
allele count: 2
allele frequency: 1.648206751054852e-5
allele num: 121344
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2863+10G>A
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1909+10G>A
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6122
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1814
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3055
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9263
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36042
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2536
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6612
  num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

2-215866295-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215866295
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215866295
    reference: chr 2
allele count: 12
allele frequency: 9.88793671720501e-5
allele num: 121360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1896C>T
  hgvsp: ENST00000389661.4:c.1896C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2850C>T
  hgvsp: ENST00000272895.7:c.2850C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25726
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6119
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2536
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 1815
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9260
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3055
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asn950Asn
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11562
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-215866309-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215866309
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215866309
    reference: chr 2
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2836C>T
  hgvsp: ENSP00000272895.7:p.Leu946Phe
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1882C>T
  hgvsp: ENSP00000374312.4:p.Leu628Phe
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15467
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7012
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25736
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1814
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36075
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 2536
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9259
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu946Phe
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/2-215866311-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215866311
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215866311
    reference: chr 2
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2834G>T
  hgvsp: ENSP00000272895.7:p.Arg945Met
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1880G>T
  hgvsp: ENSP00000374312.4:p.Arg627Met
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2267
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
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genotype depth: GenotypeDepth
  all individuals: 15468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1815
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genotype quality: GenotypeQuality
  all individuals: 1083
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genotype quality: GenotypeQuality
  all individuals: 36074
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg945Met
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6612
  num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

2-215866316-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215866316
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215866316
    reference: chr 2
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1875T>A
  hgvsp: ENST00000389661.4:c.1875T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2829T>A
  hgvsp: ENST00000272895.7:c.2829T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 9.75e1
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6107
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3056
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  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: 2
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9262
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2537
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala943Ala
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11570
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

2-215866317-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215866317
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215866317
    reference: chr 2
allele count: 2
allele frequency: 1.64774506088418e-5
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2828C>T
  hgvsp: ENSP00000272895.7:p.Ala943Val
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1874C>T
  hgvsp: ENSP00000374312.4:p.Ala625Val
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
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genotype depth: GenotypeDepth
  all individuals: 6
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genotype depth: GenotypeDepth
  all individuals: 4
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genotype depth: GenotypeDepth
  all individuals: 10
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genotype depth: GenotypeDepth
  all individuals: 505
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 916
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genotype depth: GenotypeDepth
  all individuals: 195
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2537
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala943Val
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6612
  num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/2-215866325-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215866325
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215866325
    reference: chr 2
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1866G>T
  hgvsp: ENSP00000374312.4:p.Glu622Asp
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2820G>T
  hgvsp: ENSP00000272895.7:p.Glu940Asp
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 3.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1814
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
hgvs: p.Glu940Asp
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16508
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

2-215866326-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215866326
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215866326
    reference: chr 2
allele count: 6
allele frequency: 4.94323518265254e-5
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1865A>T
  hgvsp: ENSP00000374312.4:p.Glu622Val
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2819A>T
  hgvsp: ENSP00000272895.7:p.Glu940Val
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7010
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 4.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 729
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hgvs: p.Glu940Val
num of homozygotes: 0
population: African
  type: Population
  allele count: 6
  allele frequency: 5.768121515093252e-4
  allele num: 10402
  num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-215866331-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215866331
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215866331
    reference: chr 2
allele count: 22
allele frequency: 1.81260916850674e-4
allele num: 121372
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1860A>G
  hgvsp: ENST00000389661.4:c.1860A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2814A>G
  hgvsp: ENST00000272895.7:c.2814A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25745
  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 5
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genotype depth: GenotypeDepth
  all individuals: 225
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu938Glu
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16508
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

2-215866333-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215866333
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215866333
    reference: chr 2
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1858G>C
  hgvsp: ENSP00000374312.4:p.Glu620Gln
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2812G>C
  hgvsp: ENSP00000272895.7:p.Glu938Gln
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7011
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25756
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9267
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1814
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2535
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6080
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3059
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36094
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu938Gln
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6612
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum

2-215866341-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215866341
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215866340
    reference: chr 2
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2803delA
  hgvsp: ENSP00000272895.7:p.Thr935ProfsTer2
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1849delA
  hgvsp: ENSP00000374312.4:p.Thr617ProfsTer2
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15473
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25758
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9268
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  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: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1814
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3057
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6079
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2536
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36097
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr935ProfsTer2
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: GT
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum

2-215866349-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215866349
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215866349
    reference: chr 2
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2796A>G
  hgvsp: ENST00000272895.7:c.2796A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1842A>G
  hgvsp: ENST00000389661.4:c.1842A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36091
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6078
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1814
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2536
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3056
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9269
  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
hgvs: p.Ala932Ala
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum

2-215866359-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215866359
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215866359
    reference: chr 2
allele count: 2
allele frequency: 1.647989452867502e-5
allele num: 121360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1832G>A
  hgvsp: ENSP00000374312.4:p.Arg611His
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2786G>A
  hgvsp: ENSP00000272895.7:p.Arg929His
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25751
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36081
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3056
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9262
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6077
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2536
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1814
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg929His
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10402
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

2-215866360-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215866360
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215866360
    reference: chr 2
allele count: 3
allele frequency: 2.472065658063878e-5
allele num: 121356
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2785C>T
  hgvsp: ENSP00000272895.7:p.Arg929Cys
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1831C>T
  hgvsp: ENSP00000374312.4:p.Arg611Cys
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25750
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9260
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36076
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6075
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3055
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2535
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1814
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg929Cys
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11568
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

2-215866367-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215866367
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215866367
    reference: chr 2
allele count: 2
allele frequency: 1.648098094798602e-5
allele num: 121352
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1824A>G
  hgvsp: ENST00000389661.4:c.1824A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2778A>G
  hgvsp: ENST00000272895.7:c.2778A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15473
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6981
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25755
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  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: 1
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 2535
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3055
  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 36074
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1815
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 9257
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6072
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Leu926Leu
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 2.997961386257345e-5
  allele num: 66712
  num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD

2-215866368-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215866368
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215866368
    reference: chr 2
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1823T>C
  hgvsp: ENSP00000374312.4:p.Leu608Ser
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2777T>C
  hgvsp: ENSP00000272895.7:p.Leu926Ser
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3055
  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 730
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 36070
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu926Ser
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10402
  num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP

2-215866369-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215866369
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215866369
    reference: chr 2
allele count: 7
allele frequency: 5.768628549766783e-5
allele num: 121346
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2776T>C
  hgvsp: ENST00000272895.7:c.2776T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1822T>C
  hgvsp: ENST00000389661.4:c.1822T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 4.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1815
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6070
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu926Leu
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum

2-215866372-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215866372
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215866372
    reference: chr 2
allele count: 7
allele frequency: 5.768723628691983e-5
allele num: 121344
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1819G>A
  hgvsp: ENSP00000374312.4:p.Val607Ile
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2773G>A
  hgvsp: ENSP00000272895.7:p.Val925Ile
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 623
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4349
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25762
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36072
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2535
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val925Ile
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

2-215866390-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215866390
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215866390
    reference: chr 2
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2755G>A
  hgvsp: ENSP00000272895.7:p.Val919Ile
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1801G>A
  hgvsp: ENSP00000374312.4:p.Val601Ile
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4350
  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 15469
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genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 134
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genotype depth: GenotypeDepth
  all individuals: 932
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1815
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1084
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val919Ile
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10400
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS

2-215866401-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215866401
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215866401
    reference: chr 2
allele count: 5
allele frequency: 4.122623307663132e-5
allele num: 121282
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1790C>T
  hgvsp: ENSP00000374312.4:p.Ser597Phe
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2744C>T
  hgvsp: ENSP00000272895.7:p.Ser915Phe
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25728
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genotype depth: GenotypeDepth
  all individuals: 222
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
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genotype depth: GenotypeDepth
  all individuals: 27
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2262
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 49
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 3
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6965
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genotype depth: GenotypeDepth
  all individuals: 930
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
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genotype quality: GenotypeQuality
  all individuals: 729
  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6054
  bin: 9.75e1
  variant carriers: 5
hgvs: p.Ser915Phe
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16508
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

2-215866403-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215866403
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215866403
    reference: chr 2
allele count: 18
allele frequency: 1.484242294308755e-4
allele num: 121274
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1788A>G
  hgvsp: ENST00000389661.4:c.1788A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2742A>G
  hgvsp: ENST00000272895.7:c.2742A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
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genotype depth: GenotypeDepth
  all individuals: 219
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
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genotype depth: GenotypeDepth
  all individuals: 498
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 133
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genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
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  variant carriers: 3
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1815
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genotype quality: GenotypeQuality
  all individuals: 730
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hgvs: p.Leu914Leu
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16508
  num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-215866420-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215866420
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215866420
    reference: chr 2
allele count: 6
allele frequency: 4.951720722951226e-5
allele num: 121170
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1771G>A
  hgvsp: ENSP00000374312.4:p.Asp591Asn
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2725G>A
  hgvsp: ENSP00000272895.7:p.Asp909Asn
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
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genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9230
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1809
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35956
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2528
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp909Asn
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8622
  num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP

2-215866421-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215866421
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215866421
    reference: chr 2
allele count: 6
allele frequency: 4.951802456094018e-5
allele num: 121168
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1770C>T
  hgvsp: ENST00000389661.4:c.1770C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2724C>T
  hgvsp: ENST00000272895.7:c.2724C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
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genotype depth: GenotypeDepth
  all individuals: 134
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6020
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 9230
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 727
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  variant carriers: 0
hgvs: p.Ile908Ile
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11508
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

2-215866427-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215866427
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215866427
    reference: chr 2
allele count: 1
allele frequency: 8.257365570088519e-6
allele num: 121104
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1764C>T
  hgvsp: ENST00000389661.4:c.1764C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2718C>T
  hgvsp: ENST00000272895.7:c.2718C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35943
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 14
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  variant carriers: 0
hgvs: p.Asp906Asp
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8620
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

2-215866469-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215866469
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215866469
    reference: chr 2
allele count: 1
allele frequency: 8.489829184636805e-6
allele num: 117788
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2684-8C>T
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1730-8C>T
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 690
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hgvs: c.2684-8C>T
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11240
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

2-215866480-AGAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215866480
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215866477
    reference: chr 2
allele count: 1
allele frequency: 8.680856974200494e-6
allele num: 115196
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2684-22_2684-20delCTC
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1730-22_1730-20delCTC
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 2872
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 639
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5330
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22704
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5962
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2413
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6476
  num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: AGAG
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum

http://identifiers.org/exac.variant/2-215866485-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 215866485
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 215866486
    reference: chr 2
allele count: 15
allele frequency: 1.419809177646524e-4
allele num: 105648
alternate allele: CA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000272895
  ensembl transcript: ENST00000272895
  gene symbol: ABCA12
  hgvsc: ENST00000272895.7:c.2684-25dupT
  variant of: http://identifiers.org/hgnc/14637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144452
  ensembl protein: ENSP00000374312
  ensembl transcript: ENST00000389661
  gene symbol: ABCA12
  hgvsc: ENST00000389661.4:c.1730-25dupT
  variant of: http://identifiers.org/hgnc/14637
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4878
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7380
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8383
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10515
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1481
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3511
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3104
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 901
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 931
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2092
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9639
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19149
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4825
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3549
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1219
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 2
  allele frequency: 1.326435866825839e-4
  allele num: 15078
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
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: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.01e-1

QD
type: SiteQuality
SIO_000300: 1.654e1

MQ
type: SiteQuality
SIO_000300: 5.945e1

FS
type: SiteQuality
SIO_000300: 4.916e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-1

DP
type: SiteQuality
SIO_000300: 2.170371e6

VQSLOD
type: SiteQuality
SIO_000300: -1.215e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.25e0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
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: 11562
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

QD
type: SiteQuality
SIO_000300: 1.34e1

MQ
type: SiteQuality
SIO_000300: 5.956e1

MQRankSum
type: SiteQuality
SIO_000300: 4.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.71e0

FS
type: SiteQuality
SIO_000300: 4.91e-1

DP
type: SiteQuality
SIO_000300: 2.170445e6

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 5.42e0

FS
type: SiteQuality
SIO_000300: 6.97e-1

QD
type: SiteQuality
SIO_000300: 3.34e1

VQSLOD
type: SiteQuality
SIO_000300: -3.946e0

DP
type: SiteQuality
SIO_000300: 2.170634e6

MQRankSum
type: SiteQuality
SIO_000300: 1.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.418e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 16510
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

DP
type: SiteQuality
SIO_000300: 2.171123e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.46e-1

QD
type: SiteQuality
SIO_000300: 1.524e1

FS
type: SiteQuality
SIO_000300: 2.565e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e0

VQSLOD
type: SiteQuality
SIO_000300: 5.590000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.989e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.968e0

QD
type: SiteQuality
SIO_000300: 1.169e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e-1

DP
type: SiteQuality
SIO_000300: 2.171147e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.972e1

African
type: Population
allele count: 452
allele frequency: 4.343647895444935e-2
allele num: 10406
num of homozygotes: 14

South Asian
type: Population
allele count: 2990
allele frequency: 1.811023622047244e-1
allele num: 16510
num of homozygotes: 318

Latino
type: Population
allele count: 1809
allele frequency: 1.564608199273482e-1
allele num: 11562
num of homozygotes: 119

East Asian
type: Population
allele count: 3202
allele frequency: 3.703446680545917e-1
allele num: 8646
num of homozygotes: 589

European (Finnish)
type: Population
allele count: 2330
allele frequency: 3.522830359842758e-1
allele num: 6614
num of homozygotes: 407

Other
type: Population
allele count: 234
allele frequency: 2.577092511013216e-1
allele num: 908
num of homozygotes: 37

DP
type: SiteQuality
SIO_000300: 5.563643e6

MQ
type: SiteQuality
SIO_000300: 5.962e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.48e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.85e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.12e0

QD
type: SiteQuality
SIO_000300: 1.644e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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: 16510
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 8.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

QD
type: SiteQuality
SIO_000300: 1.446e1

FS
type: SiteQuality
SIO_000300: 9.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.57e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.932e1

DP
type: SiteQuality
SIO_000300: 1.795075e6

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
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

DP
type: SiteQuality
SIO_000300: 1.794895e6

FS
type: SiteQuality
SIO_000300: 1.837e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.46e-1

QD
type: SiteQuality
SIO_000300: 1.837e1

VQSLOD
type: SiteQuality
SIO_000300: -9.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.65e0

MQRankSum
type: SiteQuality
SIO_000300: 1.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.79e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.95e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

DP
type: SiteQuality
SIO_000300: 1.794923e6

VQSLOD
type: SiteQuality
SIO_000300: 8.26e-1

QD
type: SiteQuality
SIO_000300: 1.417e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.0e-2

FS
type: SiteQuality
SIO_000300: 9.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-1

MQ
type: SiteQuality
SIO_000300: 6.031e1

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

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.26e-1

DP
type: SiteQuality
SIO_000300: 1.794923e6

MQ
type: SiteQuality
SIO_000300: 6.031e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

QD
type: SiteQuality
SIO_000300: 1.417e1

MQRankSum
type: SiteQuality
SIO_000300: 1.95e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

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: 6612
num of homozygotes: 0

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

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

East Asian
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allele count: 0
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FS
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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QD
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MQ
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InbreedingCoeff
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ReadPosRankSum
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DP
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East Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 1.498441620714457e-5
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African
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Other
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QD
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DP
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FS
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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European (Finnish)
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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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East Asian
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FS
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ClippingRankSum
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MQ
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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VQSLOD
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ReadPosRankSum
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DP
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African
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Latino
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European (Non-Finnish)
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South Asian
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European (Finnish)
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East Asian
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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QD
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MQ
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DP
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African
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East Asian
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European (Finnish)
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South Asian
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Latino
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European (Non-Finnish)
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MQ
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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QD
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InbreedingCoeff
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DP
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FS
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ReadPosRankSum
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VQSLOD
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South Asian
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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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Other
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ReadPosRankSum
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DP
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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FS
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MQRankSum
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MQ
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QD
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ClippingRankSum
type: SiteQuality
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African
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Latino
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South Asian
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East Asian
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Other
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European (Non-Finnish)
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BaseQRankSum
type: SiteQuality
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MQRankSum
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ClippingRankSum
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MQ
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InbreedingCoeff
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FS
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VQSLOD
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ReadPosRankSum
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QD
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DP
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European (Finnish)
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Other
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Latino
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East Asian
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European (Non-Finnish)
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African
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QD
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InbreedingCoeff
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BaseQRankSum
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DP
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ReadPosRankSum
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ClippingRankSum
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MQ
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MQRankSum
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VQSLOD
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FS
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East Asian
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European (Finnish)
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African
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Latino
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South Asian
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Other
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DP
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FS
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VQSLOD
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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MQ
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QD
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ReadPosRankSum
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European (Finnish)
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Latino
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South Asian
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European (Non-Finnish)
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East Asian
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Other
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VQSLOD
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DP
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MQ
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FS
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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QD
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European (Non-Finnish)
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Latino
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East Asian
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European (Finnish)
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African
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Other
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FS
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VQSLOD
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InbreedingCoeff
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QD
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DP
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MQRankSum
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MQ
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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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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Other
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European (Non-Finnish)
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MQ
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FS
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
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DP
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MQRankSum
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VQSLOD
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European (Non-Finnish)
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Latino
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East Asian
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African
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Other
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ClippingRankSum
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InbreedingCoeff
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DP
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MQ
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FS
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QD
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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MQRankSum
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European (Non-Finnish)
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African
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East Asian
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South Asian
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European (Finnish)
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Other
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DP
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FS
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VQSLOD
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QD
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MQ
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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Latino
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Other
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African
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European (Non-Finnish)
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South Asian
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East Asian
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MQRankSum
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MQ
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QD
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VQSLOD
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FS
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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East Asian
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African
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South Asian
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European (Finnish)
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European (Non-Finnish)
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DP
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MQ
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FS
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -1.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.06e0

QD
type: SiteQuality
SIO_000300: 1.556e1

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

Latino
type: Population
allele count: 1
allele frequency: 8.659508139937652e-5
allele num: 11548
num of homozygotes: 0

South Asian
type: Population
allele count: 14
allele frequency: 8.481764206955047e-4
allele num: 16506
num of homozygotes: 1

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

European (Non-Finnish)
type: Population
allele count: 43
allele frequency: 6.446390021587911e-4
allele num: 66704
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.928640308582449e-4
allele num: 10370
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.98e1

VQSLOD
type: SiteQuality
SIO_000300: 4.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.27e0

FS
type: SiteQuality
SIO_000300: 5.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.28e-1

QD
type: SiteQuality
SIO_000300: 1.556e1

MQRankSum
type: SiteQuality
SIO_000300: 2.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.45e-2

DP
type: SiteQuality
SIO_000300: 1.792089e6

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
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: 10364
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.14e-1

DP
type: SiteQuality
SIO_000300: 1.786721e6

FS
type: SiteQuality
SIO_000300: 1.292e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

QD
type: SiteQuality
SIO_000300: 1.413e1

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.92e-1

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: 16504
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10256
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

DP
type: SiteQuality
SIO_000300: 1.782566e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.11e-1

QD
type: SiteQuality
SIO_000300: 1.867e1

MQRankSum
type: SiteQuality
SIO_000300: 1.92e0

VQSLOD
type: SiteQuality
SIO_000300: -1.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.117e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66632
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.827044025157233e-5
allele num: 10176
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.278e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

QD
type: SiteQuality
SIO_000300: 1.31e1

DP
type: SiteQuality
SIO_000300: 1.780587e6

MQRankSum
type: SiteQuality
SIO_000300: -2.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -7.938e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.636e0

MQ
type: SiteQuality
SIO_000300: 5.325e1

FS
type: SiteQuality
SIO_000300: 5.496e0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510391493475109e-5
allele num: 66208
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9844
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.196e0

MQRankSum
type: SiteQuality
SIO_000300: -1.202e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.788e0

VQSLOD
type: SiteQuality
SIO_000300: 3.7e-2

QD
type: SiteQuality
SIO_000300: 1.039e1

DP
type: SiteQuality
SIO_000300: 1.763709e6

African
type: Population
allele count: 1
allele frequency: 1.037344398340249e-4
allele num: 9640
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.116071428571429e-3
allele num: 896
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8396
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16390
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European (Finnish)
type: Population
allele count: 20
allele frequency: 3.047851264858275e-3
allele num: 6562
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.502e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.59e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

DP
type: SiteQuality
SIO_000300: 1.740015e6

MQ
type: SiteQuality
SIO_000300: 5.985e1

FS
type: SiteQuality
SIO_000300: 7.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

African
type: Population
allele count: 4
allele frequency: 4.150238638721727e-4
allele num: 9638
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8396
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65600
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16390
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.125e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.58e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.734928e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

QD
type: SiteQuality
SIO_000300: 1.533e1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65464
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11332
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.193317422434368e-4
allele num: 8380
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9618
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16380
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.52e-1

QD
type: SiteQuality
SIO_000300: 1.156e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 3.467e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.04e0

VQSLOD
type: SiteQuality
SIO_000300: 7.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.73036e6

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8362
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9602
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16380
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11326
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.727174e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.422e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.79e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.381e0

QD
type: SiteQuality
SIO_000300: 8.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.78e-1

South Asian
type: Population
allele count: 1
allele frequency: 6.11545988258317e-5
allele num: 16352
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11296
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.01e0

MQRankSum
type: SiteQuality
SIO_000300: 8.7e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.593e-1

QD
type: SiteQuality
SIO_000300: 1.348e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.99e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e0

MQ
type: SiteQuality
SIO_000300: 5.876e1

DP
type: SiteQuality
SIO_000300: 1.717919e6

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9546
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.77430801987225e-4
allele num: 11272
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65034
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DP
type: SiteQuality
SIO_000300: 1.70989e6

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.17e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.25e-1

QD
type: SiteQuality
SIO_000300: 1.321e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.570746418698165e-5
allele num: 63664
num of homozygotes: 0

Latino
type: Population
allele count: 0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16158
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MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.76e-1

FS
type: SiteQuality
SIO_000300: 4.037e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.615306e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e0

QD
type: SiteQuality
SIO_000300: 5.72e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.04e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6454
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.255335174491589e-4
allele num: 7966
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10930
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62804
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.518327e6

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -9.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.855e0

QD
type: SiteQuality
SIO_000300: 1.23e1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10878
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62532
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
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African
type: Population
allele count: 2
allele frequency: 2.164502164502165e-4
allele num: 9240
num of homozygotes: 0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.025e0

MQRankSum
type: SiteQuality
SIO_000300: 1.48e-1

FS
type: SiteQuality
SIO_000300: 1.191e0

DP
type: SiteQuality
SIO_000300: 1.471646e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6348
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.667333600106709e-5
allele num: 59976
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
SIO_000300: -5.241e-1

FS
type: SiteQuality
SIO_000300: 4.574e0

MQRankSum
type: SiteQuality
SIO_000300: 4.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.45e-1

QD
type: SiteQuality
SIO_000300: 6.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.241294e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.237e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.7e-2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15644
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European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.04116955133591e-5
allele num: 59510
num of homozygotes: 0

Other
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allele count: 0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10408
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8822
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6340
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.14e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.93e-1

QD
type: SiteQuality
SIO_000300: 1.248e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

MQ
type: SiteQuality
SIO_000300: 5.924e1

MQRankSum
type: SiteQuality
SIO_000300: 2.46e-1

DP
type: SiteQuality
SIO_000300: 1.228947e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59510
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African
type: Population
allele count: 1
allele frequency: 1.133529811834051e-4
allele num: 8822
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15644
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6340
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MQRankSum
type: SiteQuality
SIO_000300: 2.46e-1

QD
type: SiteQuality
SIO_000300: 1.248e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.5e-1

MQ
type: SiteQuality
SIO_000300: 5.924e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.228947e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.14e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7258
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 58542
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6294
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South Asian
type: Population
allele count: 0
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allele num: 15520
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Latino
type: Population
allele count: 1
allele frequency: 9.778994719342852e-5
allele num: 10226
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Other
type: Population
allele count: 0
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allele num: 842
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VQSLOD
type: SiteQuality
SIO_000300: -5.2e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.67e-1

MQ
type: SiteQuality
SIO_000300: 5.863e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e0

FS
type: SiteQuality
SIO_000300: 1.505e0

DP
type: SiteQuality
SIO_000300: 1.215136e6

QD
type: SiteQuality
SIO_000300: 1.106e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10226
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.708175327115575e-5
allele num: 58542
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East Asian
type: Population
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allele frequency: 1.377790024800221e-4
allele num: 7258
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African
type: Population
allele count: 7
allele frequency: 8.05523590333717e-4
allele num: 8690
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South Asian
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
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allele num: 842
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FS
type: SiteQuality
SIO_000300: 1.505e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e0

MQ
type: SiteQuality
SIO_000300: 5.863e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.39e-1

QD
type: SiteQuality
SIO_000300: 1.106e1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.86e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.2e-2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6244
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9948
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56952
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African
type: Population
allele count: 0
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allele num: 8416
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East Asian
type: Population
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allele frequency: 1.421262080727686e-4
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.25e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.708e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.6e-3

FS
type: SiteQuality
SIO_000300: 1.2693e1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.204997e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

DP
type: SiteQuality
SIO_000300: 2.010358e6

MQRankSum
type: SiteQuality
SIO_000300: -4.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.180000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.895e1

QD
type: SiteQuality
SIO_000300: 1.469e1

Latino
type: Population
allele count: 1
allele frequency: 8.653513326410523e-5
allele num: 11556
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South Asian
type: Population
allele count: 0
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African
type: Population
allele count: 0
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Other
type: Population
allele count: 0
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allele num: 908
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66694
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East Asian
type: Population
allele count: 0
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.81e-1

FS
type: SiteQuality
SIO_000300: 1.162e0

MQRankSum
type: SiteQuality
SIO_000300: -1.008e0

DP
type: SiteQuality
SIO_000300: 2.010677e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.36e-1

QD
type: SiteQuality
SIO_000300: 1.48e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.978e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.533e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
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African
type: Population
allele count: 0
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allele num: 10402
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Other
type: Population
allele count: 0
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allele num: 908
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South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
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ReadPosRankSum
type: SiteQuality
SIO_000300: -6.01e-1

QD
type: SiteQuality
SIO_000300: 1.173e1

MQRankSum
type: SiteQuality
SIO_000300: -1.246e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.82e-1

DP
type: SiteQuality
SIO_000300: 2.011321e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.88e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.3e-3

MQ
type: SiteQuality
SIO_000300: 5.983e1

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

Latino
type: Population
allele count: 0
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allele num: 11560
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South Asian
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allele count: 2
allele frequency: 1.21153380179307e-4
allele num: 16508
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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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: 0
allele frequency: 0.0e0
allele num: 66706
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DP
type: SiteQuality
SIO_000300: 2.011503e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.49e-1

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.98e1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 9.970000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-2

African
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South Asian
type: Population
allele count: 2
allele frequency: 1.21153380179307e-4
allele num: 16508
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
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East Asian
type: Population
allele count: 0
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-2

QD
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -3.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

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

East Asian
type: Population
allele count: 0
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Other
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allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
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European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.498935755613514e-4
allele num: 66714
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South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
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African
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allele count: 0
allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e0

MQRankSum
type: SiteQuality
SIO_000300: 1.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.949e1

QD
type: SiteQuality
SIO_000300: 1.285e1

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.44e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
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
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allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.984e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.945e0

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.5e-2

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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Latino
type: Population
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allele num: 11564
num of homozygotes: 0

Other
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South Asian
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allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

East Asian
type: Population
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.011126e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.17e-1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.24e-1

QD
type: SiteQuality
SIO_000300: 1.357e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.85e-1

Other
type: Population
allele count: 0
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allele num: 908
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European (Finnish)
type: Population
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allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

African
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South Asian
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East Asian
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European (Non-Finnish)
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allele count: 0
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.52e-1

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.34e0

QD
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.71e-1

DP
type: SiteQuality
SIO_000300: 2.011084e6

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
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Other
type: Population
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
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allele num: 16508
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MQRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.745e0

FS
type: SiteQuality
SIO_000300: 4.53e-1

DP
type: SiteQuality
SIO_000300: 2.011096e6

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.524e0

QD
type: SiteQuality
SIO_000300: 1.322e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

African
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East Asian
type: Population
allele count: 0
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Latino
type: Population
allele count: 0
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Other
type: Population
allele count: 0
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allele num: 908
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.159e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.678e0

VQSLOD
type: SiteQuality
SIO_000300: 2.24e-1

DP
type: SiteQuality
SIO_000300: 2.010972e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.06e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.173e0

MQ
type: SiteQuality
SIO_000300: 5.985e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e-1

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: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.964e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 4.056e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.85e0

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

DP
type: SiteQuality
SIO_000300: 2.011455e6

QD
type: SiteQuality
SIO_000300: 1.215e1

MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.88e-1

European (Non-Finnish)
type: Population
allele count: 22
allele frequency: 3.2974609550646e-4
allele num: 66718
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.967e1

QD
type: SiteQuality
SIO_000300: 1.466e1

MQRankSum
type: SiteQuality
SIO_000300: 3.08e-1

FS
type: SiteQuality
SIO_000300: 5.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.52e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.73e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.83e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.2e-1

DP
type: SiteQuality
SIO_000300: 2.012655e6

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
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: 11570
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: 8654
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.435e1

MQ
type: SiteQuality
SIO_000300: 5.868e1

DP
type: SiteQuality
SIO_000300: 2.009855e6

FS
type: SiteQuality
SIO_000300: 8.432e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.49e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.692e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.55e0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.56e-1

MQ
type: SiteQuality
SIO_000300: 6.013e1

MQRankSum
type: SiteQuality
SIO_000300: -7.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.95e0

FS
type: SiteQuality
SIO_000300: 2.626e0

QD
type: SiteQuality
SIO_000300: 1.136e1

DP
type: SiteQuality
SIO_000300: 2.00961e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.31e-1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
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: 8654
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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.056e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

FS
type: SiteQuality
SIO_000300: 5.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

VQSLOD
type: SiteQuality
SIO_000300: 8.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.295e1

DP
type: SiteQuality
SIO_000300: 2.009585e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.688e0

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: 16508
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: 11568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.86e0

FS
type: SiteQuality
SIO_000300: 2.422e0

QD
type: SiteQuality
SIO_000300: 1.347e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.45e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.87e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.009431e6

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: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.988e1

QD
type: SiteQuality
SIO_000300: 1.353e1

VQSLOD
type: SiteQuality
SIO_000300: 2.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.75e-1

FS
type: SiteQuality
SIO_000300: 1.245e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.41e-1

DP
type: SiteQuality
SIO_000300: 2.009359e6

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.18e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

FS
type: SiteQuality
SIO_000300: 1.18e0

VQSLOD
type: SiteQuality
SIO_000300: 7.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 2.009128e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.04e0

QD
type: SiteQuality
SIO_000300: 1.323e1

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: 11562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
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: 0
allele frequency: 0.0e0
allele num: 16508
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FS
type: SiteQuality
SIO_000300: 6.166e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.89e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.921e0

VQSLOD
type: SiteQuality
SIO_000300: 5.35e-1

QD
type: SiteQuality
SIO_000300: 1.038e1

MQRankSum
type: SiteQuality
SIO_000300: 8.01e-1

DP
type: SiteQuality
SIO_000300: 2.008996e6

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: 6606
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.190311418685121e-4
allele num: 11560
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16508
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.49e0

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

QD
type: SiteQuality
SIO_000300: 1.438e1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.009321e6

FS
type: SiteQuality
SIO_000300: 5.75e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.33e-1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
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East Asian
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allele count: 0
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Latino
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allele count: 2
allele frequency: 1.729804532087874e-4
allele num: 11562
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African
type: Population
allele count: 4
allele frequency: 3.845414343395501e-4
allele num: 10402
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
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FS
type: SiteQuality
SIO_000300: 1.222e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.11e-1

DP
type: SiteQuality
SIO_000300: 2.008888e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.44e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
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East Asian
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Latino
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499430216517723e-5
allele num: 66692
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Other
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -4.88e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.233e0

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.38e0

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.71e0

FS
type: SiteQuality
SIO_000300: 9.08e-1

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
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African
type: Population
allele count: 5
allele frequency: 4.807692307692308e-4
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Other
type: Population
allele count: 0
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Latino
type: Population
allele count: 0
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allele num: 11544
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VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.845e0

FS
type: SiteQuality
SIO_000300: 1.311e0

DP
type: SiteQuality
SIO_000300: 2.007157e6

QD
type: SiteQuality
SIO_000300: 1.329e1

MQRankSum
type: SiteQuality
SIO_000300: 2.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.93e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.29e-1

East Asian
type: Population
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African
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allele count: 17
allele frequency: 1.634615384615385e-3
allele num: 10400
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
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Latino
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allele count: 1
allele frequency: 8.665511265164645e-5
allele num: 11540
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BaseQRankSum
type: SiteQuality
SIO_000300: 5.61e0

FS
type: SiteQuality
SIO_000300: 6.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.0e-2

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.84e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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South Asian
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allele count: 4
allele frequency: 2.423361201987156e-4
allele num: 16506
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Latino
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European (Finnish)
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allele count: 1
allele frequency: 1.516070345664039e-4
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African
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allele count: 0
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500555205426008e-5
allele num: 66642
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.6e-2

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.84e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.78e0

FS
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.004401e6

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 6.958942240779402e-4
allele num: 8622
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.362e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.35e-1

QD
type: SiteQuality
SIO_000300: 1.248e1

MQ
type: SiteQuality
SIO_000300: 5.966e1

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.974e0

VQSLOD
type: SiteQuality
SIO_000300: 2.96e0

DP
type: SiteQuality
SIO_000300: 2.003868e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.48e-1

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: 6596
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66594
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.76e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.408e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.001774e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

QD
type: SiteQuality
SIO_000300: 1.574e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.246e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.24e-1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.550724188195888e-5
allele num: 64486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10100
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16306
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8240
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
SIO_000300: 1.879001e6

QD
type: SiteQuality
SIO_000300: 1.162e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.68e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.51e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7910
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10980
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16122
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9866
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.588310038119441e-5
allele num: 62960
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.793e0

MQ
type: SiteQuality
SIO_000300: 3.428e1

VQSLOD
type: SiteQuality
SIO_000300: -1.253e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.6e-2

QD
type: SiteQuality
SIO_000300: 1.29e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.386e0

DP
type: SiteQuality
SIO_000300: 1.707968e6

MQRankSum
type: SiteQuality
SIO_000300: -1.977e0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.601537475976938e-4
allele num: 6244
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.410835214446952e-4
allele num: 7088
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.204819277108434e-3
allele num: 830
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9844
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9182
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.742706772158517e-4
allele num: 57382
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.33e0

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.02e-2