21-46957645-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957645
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957645
    reference: chr 21
allele count: 0
allele frequency: 0.0e0
allele num: 1288
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.189+40G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.189+40G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.189+40G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.189+40G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  hgvsc: ENST00000486303.1:n.163+40G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.189+40G>A
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33945
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6441
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34020
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2243
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2284
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/21-46957646-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957646
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957646
    reference: chr 21
allele count: 110
allele frequency: 2.282157676348548e-1
allele num: 482
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.189+39T>G
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.189+39T>G
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.189+39T>G
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  hgvsc: ENST00000486303.1:n.163+39T>G
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.189+39T>G
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.189+39T>G
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34637
  bin: 2.5e0
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7443
  bin: 7.5e0
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 1.25e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7360
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 8.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2125
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 9.75e1
  variant carriers: 173
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 5
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP

21-46957649-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957649
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957649
    reference: chr 21
allele count: 6
allele frequency: 4.316546762589928e-3
allele num: 1390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.189+36G>C
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.189+36G>C
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.189+36G>C
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  hgvsc: ENST00000486303.1:n.163+36G>C
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.189+36G>C
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.189+36G>C
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8801
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37638
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  variant carriers: 3
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5112
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  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 204
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genotype quality: GenotypeQuality
  all individuals: 1428
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35797
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1857
  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2488
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

21-46957655-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957655
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957655
    reference: chr 21
allele count: 3
allele frequency: 1.835985312117503e-3
allele num: 1634
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.189+30G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.189+30G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.189+30G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  hgvsc: ENST00000486303.1:n.163+30G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.189+30G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.189+30G>A
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14575
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
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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: 6
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 3
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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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11798
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 1979
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1525
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 34993
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  variant carriers: 3
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

21-46957656-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957656
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957656
    reference: chr 21
allele count: 2
allele frequency: 6.872852233676976e-4
allele num: 2910
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  hgvsc: ENST00000486303.1:n.163+29C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.189+29C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.189+29C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.189+29C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.189+29C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.189+29C>T
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20252
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33319
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31750
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1647
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17714
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

21-46957656-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957656
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957656
    reference: chr 21
allele count: 0
allele frequency: 0.0e0
allele num: 2910
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  hgvsc: ENST00000486303.1:n.163+29C>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.189+29C>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.189+29C>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.189+29C>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.189+29C>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.189+29C>A
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33319
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20252
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17714
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

21-46957659-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957659
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957659
    reference: chr 21
allele count: 1
allele frequency: 2.600104004160167e-4
allele num: 3846
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.189+26G>C
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  hgvsc: ENST00000486303.1:n.163+26G>C
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.189+26G>C
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.189+26G>C
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.189+26G>C
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.189+26G>C
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28761
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25662
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23239
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27537
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

21-46957660-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957660
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957660
    reference: chr 21
allele count: 14
allele frequency: 3.104212860310421e-3
allele num: 4510
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.189+25C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  hgvsc: ENST00000486303.1:n.163+25C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.189+25C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.189+25C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.189+25C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.189+25C>T
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29470
  bin: 7.5e0
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25128
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 1.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24129
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 26748
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.25e1
  variant carriers: 2
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

21-46957660-GCCCGGCAC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957660
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957652
    reference: chr 21
allele count: 1
allele frequency: 2.217294900221729e-4
allele num: 4510
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29470
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24129
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26748
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: GCCCGGCAC
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

21-46957664-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957664
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957664
    reference: chr 21
allele count: 9
allele frequency: 1.142131979695432e-3
allele num: 7880
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.189+21C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  hgvsc: ENST00000486303.1:n.163+21C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.189+21C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.189+21C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.189+21C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.189+21C>T
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19305
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34315
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2991
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1255
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18561
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 3.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

21-46957664-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957664
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957664
    reference: chr 21
allele count: 1
allele frequency: 1.269035532994924e-4
allele num: 7880
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.189+21C>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  hgvsc: ENST00000486303.1:n.163+21C>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.189+21C>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.189+21C>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.189+21C>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.189+21C>A
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19305
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34315
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2991
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18561
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31187
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ

21-46957671-C-CGGCACCCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957671
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957679
    reference: chr 21
allele count: 0
allele frequency: 0.0e0
allele num: 15668
alternate allele: CGGCACCCA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38188
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4098
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3607
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1675
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11913
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35605
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

21-46957671-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957671
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957671
    reference: chr 21
allele count: 11
allele frequency: 7.02067909114118e-4
allele num: 15668
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.189+14G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  hgvsc: ENST00000486303.1:n.163+14G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.189+14G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.189+14G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.189+14G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.189+14G>A
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4098
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38188
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3607
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11913
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2099
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1675
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3320
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

21-46957672-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957672
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957672
    reference: chr 21
allele count: 1
allele frequency: 5.565449688334817e-5
allele num: 17968
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.189+13C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.189+13C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.189+13C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.189+13C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.189+13C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  hgvsc: ENST00000486303.1:n.163+13C>T
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11491
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4040
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4240
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1824
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11148
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3752
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35684
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum

21-46957690-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957690
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957690
    reference: chr 21
allele count: 3
allele frequency: 6.201422192822888e-5
allele num: 48376
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.184G>A
  hgvsp: ENSP00000308895.4:p.Glu62Lys
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.184G>A
  hgvsp: ENSP00000457278.1:p.Glu62Lys
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.184G>A
  hgvsp: ENSP00000411345.1:p.Glu62Lys
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.184G>A
  hgvsp: ENSP00000369347.4:p.Glu62Lys
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.184G>A
  hgvsp: ENSP00000401850.1:p.Glu62Lys
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  hgvsc: ENST00000486303.1:n.158G>A
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17975
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31370
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4242
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17345
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1777
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4063
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu62Lys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

21-46957692-C-CGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957692
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957694
    reference: chr 21
allele count: 1
allele frequency: 1.920860545524395e-5
allele num: 52060
alternate allele: CGA
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.181_182insTC
  hgvsp: ENSP00000308895.4:p.Arg61LeufsTer144
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.181_182insTC
  hgvsp: ENSP00000401850.1:p.Arg61LeufsTer?
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.181_182insTC
  hgvsp: ENSP00000457278.1:p.Arg61LeufsTer144
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: incomplete_terminal_codon_variant
  consequence: inframe_insertion
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.181_182insTC
  hgvsp: ENSP00000435780.1:p.60_61insLeu
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  hgvsc: ENST00000486303.1:n.155_156insTC
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.181_182insTC
  hgvsp: ENSP00000369347.4:p.Arg61LeufsTer144
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.181_182insTC
  hgvsp: ENSP00000411345.1:p.Arg61LeufsTer?
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3762
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29754
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19747
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1745
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19142
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg61LeufsTer144
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum

21-46957693-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957693
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957693
    reference: chr 21
allele count: 12
allele frequency: 2.149767108563239e-4
allele num: 55820
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  hgvsc: ENST00000486303.1:n.155C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.181C>T
  hgvsp: ENSP00000369347.4:p.Arg61Trp
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.181C>T
  hgvsp: ENSP00000411345.1:p.Arg61Trp
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.181C>T
  hgvsp: ENSP00000457278.1:p.Arg61Trp
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.181C>T
  hgvsp: ENSP00000308895.4:p.Arg61Trp
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.181C>T
  hgvsp: ENSP00000401850.1:p.Arg61Trp
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: incomplete_terminal_codon_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.181C>T
  hgvsp: ENST00000528477.1:c.181C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21517
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1671
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3393
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20934
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg61Trp
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP

21-46957695-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957695
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957695
    reference: chr 21
allele count: 4
allele frequency: 6.553938917289291e-5
allele num: 61032
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.179C>T
  hgvsp: ENSP00000457278.1:p.Thr60Met
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.179C>T
  hgvsp: ENSP00000411345.1:p.Thr60Met
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.179C>T
  hgvsp: ENSP00000369347.4:p.Thr60Met
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.179C>T
  hgvsp: ENSP00000308895.4:p.Thr60Met
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.179C>T
  hgvsp: ENSP00000435780.1:p.Thr60Met
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.179C>T
  hgvsp: ENSP00000401850.1:p.Thr60Met
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  hgvsc: ENST00000486303.1:n.153C>T
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3684
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24085
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2956
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr60Met
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

21-46957697-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957697
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957697
    reference: chr 21
allele count: 1
allele frequency: 1.531909678605349e-5
allele num: 65278
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.177C>T
  hgvsp: ENST00000567670.1:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.177C>T
  hgvsp: ENST00000380010.4:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  hgvsc: ENST00000486303.1:n.151C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.177C>T
  hgvsp: ENST00000443742.1:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.177C>T
  hgvsp: ENST00000528477.1:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.177C>T
  hgvsp: ENST00000427839.1:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.177C>T
  hgvsp: ENST00000311124.4:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3526
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24570
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2720
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1478
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Phe59Phe
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP

21-46957703-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957703
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957703
    reference: chr 21
allele count: 1
allele frequency: 1.394155699308499e-5
allele num: 71728
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  hgvsc: ENST00000486303.1:n.145G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.171G>A
  hgvsp: ENST00000380010.4:c.171G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.171G>A
  hgvsp: ENST00000528477.1:c.171G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.171G>A
  hgvsp: ENST00000311124.4:c.171G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.171G>A
  hgvsp: ENST00000443742.1:c.171G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.171G>A
  hgvsp: ENST00000567670.1:c.171G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.171G>A
  hgvsp: ENST00000427839.1:c.171G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3329
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21776
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28839
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21496
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2340
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27312
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys57Lys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

21-46957703-CTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957703
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957701
    reference: chr 21
allele count: 1
allele frequency: 1.394155699308499e-5
allele num: 71728
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.169_170delAA
  hgvsp: ENSP00000369347.4:p.Lys57GlufsTer336
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.169_170delAA
  hgvsp: ENSP00000411345.1:p.Lys57GlufsTer?
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  hgvsc: ENST00000486303.1:n.143_144delAA
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.169_170delAA
  hgvsp: ENSP00000435780.1:p.Lys57GlufsTer?
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.169_170delAA
  hgvsp: ENSP00000457278.1:p.Lys57GlufsTer336
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.169_170delAA
  hgvsp: ENSP00000308895.4:p.Lys57GlufsTer336
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.169_170delAA
  hgvsp: ENSP00000401850.1:p.Lys57GlufsTer?
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21776
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2454
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3329
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21496
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27312
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys57GlufsTer336
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: CTT
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

21-46957705-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957705
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957705
    reference: chr 21
allele count: 6
allele frequency: 8.174609662388621e-5
allele num: 73398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  hgvsc: ENST00000486303.1:n.143A>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.169A>T
  hgvsp: ENSP00000435780.1:p.Lys57Ter
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.169A>T
  hgvsp: ENSP00000411345.1:p.Lys57Ter
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.169A>T
  hgvsp: ENSP00000308895.4:p.Lys57Ter
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.169A>T
  hgvsp: ENSP00000401850.1:p.Lys57Ter
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.169A>T
  hgvsp: ENSP00000457278.1:p.Lys57Ter
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.169A>T
  hgvsp: ENSP00000369347.4:p.Lys57Ter
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29474
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys57Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

21-46957706-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957706
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957706
    reference: chr 21
allele count: 1
allele frequency: 1.351533991079876e-5
allele num: 73990
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.168C>G
  hgvsp: ENSP00000457278.1:p.Asp56Glu
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.168C>G
  hgvsp: ENSP00000369347.4:p.Asp56Glu
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.168C>G
  hgvsp: ENSP00000308895.4:p.Asp56Glu
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.168C>G
  hgvsp: ENSP00000411345.1:p.Asp56Glu
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.168C>G
  hgvsp: ENSP00000435780.1:p.Asp56Glu
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.168C>G
  hgvsp: ENSP00000401850.1:p.Asp56Glu
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  hgvsc: ENST00000486303.1:n.142C>G
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20810
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1293
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20624
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27827
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asp56Glu
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

21-46957708-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957708
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957708
    reference: chr 21
allele count: 69
allele frequency: 9.141736664988473e-4
allele num: 75478
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.166G>C
  hgvsp: ENSP00000411345.1:p.Asp56His
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.166G>C
  hgvsp: ENSP00000457278.1:p.Asp56His
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.166G>C
  hgvsp: ENSP00000435780.1:p.Asp56His
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.166G>C
  hgvsp: ENSP00000308895.4:p.Asp56His
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.166G>C
  hgvsp: ENSP00000401850.1:p.Asp56His
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.166G>C
  hgvsp: ENSP00000369347.4:p.Asp56His
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  hgvsc: ENST00000486303.1:n.140G>C
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29564
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3465
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19920
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 1.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 19805
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1383
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp56His
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: MQ

21-46957708-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957708
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957708
    reference: chr 21
allele count: 13
allele frequency: 1.722356183258698e-4
allele num: 75478
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.166G>A
  hgvsp: ENSP00000435780.1:p.Asp56Asn
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.166G>A
  hgvsp: ENSP00000457278.1:p.Asp56Asn
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.166G>A
  hgvsp: ENSP00000401850.1:p.Asp56Asn
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.166G>A
  hgvsp: ENSP00000308895.4:p.Asp56Asn
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.166G>A
  hgvsp: ENSP00000411345.1:p.Asp56Asn
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  hgvsc: ENST00000486303.1:n.140G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.166G>A
  hgvsp: ENSP00000369347.4:p.Asp56Asn
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29564
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3465
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19920
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19805
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 9.75e1
  variant carriers: 9
hgvs: p.Asp56Asn
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

21-46957709-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957709
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957709
    reference: chr 21
allele count: 2
allele frequency: 2.592957527355702e-5
allele num: 77132
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  hgvsc: ENST00000486303.1:n.139C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.165C>T
  hgvsp: ENST00000567670.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.165C>T
  hgvsp: ENST00000427839.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.165C>T
  hgvsp: ENST00000311124.4:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.165C>T
  hgvsp: ENST00000443742.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.165C>T
  hgvsp: ENST00000528477.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.165C>T
  hgvsp: ENST00000380010.4:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19365
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3400
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19395
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2002
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro55Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/21-46957712-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957712
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957712
    reference: chr 21
allele count: 1
allele frequency: 1.256944619020086e-5
allele num: 79558
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.162G>T
  hgvsp: ENST00000380010.4:c.162G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  hgvsc: ENST00000486303.1:n.136G>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.162G>T
  hgvsp: ENST00000427839.1:c.162G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.162G>T
  hgvsp: ENST00000528477.1:c.162G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.162G>T
  hgvsp: ENST00000443742.1:c.162G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.162G>T
  hgvsp: ENST00000567670.1:c.162G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.162G>T
  hgvsp: ENST00000311124.4:c.162G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3555
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3900
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29427
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1890
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly54Gly
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

21-46957720-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957720
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957720
    reference: chr 21
allele count: 1
allele frequency: 1.157327037474249e-5
allele num: 86406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.154C>G
  hgvsp: ENSP00000369347.4:p.Leu52Val
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.154C>G
  hgvsp: ENSP00000401850.1:p.Leu52Val
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.154C>G
  hgvsp: ENSP00000435780.1:p.Leu52Val
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.154C>G
  hgvsp: ENSP00000308895.4:p.Leu52Val
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.154C>G
  hgvsp: ENSP00000457278.1:p.Leu52Val
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.154C>G
  hgvsp: ENSP00000411345.1:p.Leu52Val
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  hgvsc: ENST00000486303.1:n.128C>G
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15438
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3723
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4570
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2391
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu52Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

21-46957725-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957725
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957725
    reference: chr 21
allele count: 1
allele frequency: 1.125745806596871e-5
allele num: 88830
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.149C>T
  hgvsp: ENSP00000435780.1:p.Pro50Leu
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.149C>T
  hgvsp: ENSP00000308895.4:p.Pro50Leu
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.149C>T
  hgvsp: ENSP00000457278.1:p.Pro50Leu
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.149C>T
  hgvsp: ENSP00000411345.1:p.Pro50Leu
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.149C>T
  hgvsp: ENSP00000401850.1:p.Pro50Leu
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  hgvsc: ENST00000486303.1:n.123C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.149C>T
  hgvsp: ENSP00000369347.4:p.Pro50Leu
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14357
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2581
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32742
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15345
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro50Leu
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

21-46957730-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957730
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957730
    reference: chr 21
allele count: 3
allele frequency: 3.325794864972728e-5
allele num: 90204
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.144C>T
  hgvsp: ENST00000427839.1:c.144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.144C>T
  hgvsp: ENST00000380010.4:c.144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.144C>T
  hgvsp: ENST00000311124.4:c.144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.144C>T
  hgvsp: ENST00000528477.1:c.144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.144C>T
  hgvsp: ENST00000443742.1:c.144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.144C>T
  hgvsp: ENST00000567670.1:c.144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  hgvsc: ENST00000486303.1:n.118C>T
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4979
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13722
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1697
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31206
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1388
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1747
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile48Ile
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

21-46957736-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957736
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957736
    reference: chr 21
allele count: 1
allele frequency: 1.095050372317127e-5
allele num: 91320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  hgvsc: ENST00000486303.1:n.112C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.138C>T
  hgvsp: ENST00000567670.1:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.138C>T
  hgvsp: ENST00000380010.4:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.138C>T
  hgvsp: ENST00000528477.1:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.138C>T
  hgvsp: ENST00000311124.4:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.138C>T
  hgvsp: ENST00000443742.1:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.138C>T
  hgvsp: ENST00000427839.1:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30179
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5682
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5496
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1419
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2591
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1934
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser46Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP

21-46957757-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957757
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957757
    reference: chr 21
allele count: 1
allele frequency: 1.064237367502448e-5
allele num: 93964
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.117G>A
  hgvsp: ENST00000311124.4:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.117G>A
  hgvsp: ENST00000567670.1:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.117G>A
  hgvsp: ENST00000427839.1:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.117G>A
  hgvsp: ENST00000380010.4:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.117G>A
  hgvsp: ENST00000528477.1:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  hgvsc: ENST00000486303.1:n.91G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.117G>A
  hgvsp: ENST00000443742.1:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11718
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25934
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8757
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5013
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2239
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14926
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2697
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala39Ala
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

21-46957769-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957769
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957769
    reference: chr 21
allele count: 3
allele frequency: 3.168500876618576e-5
allele num: 94682
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.105C>T
  hgvsp: ENST00000311124.4:c.105C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.105C>T
  hgvsp: ENST00000380010.4:c.105C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.105C>T
  hgvsp: ENST00000443742.1:c.105C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.105C>T
  hgvsp: ENST00000427839.1:c.105C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.105C>T
  hgvsp: ENST00000528477.1:c.105C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  hgvsc: ENST00000486303.1:n.79C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.105C>T
  hgvsp: ENST00000567670.1:c.105C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22684
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11482
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6633
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10591
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6598
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3219
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24296
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2958
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Tyr35Tyr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/21-46957778-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957778
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957778
    reference: chr 21
allele count: 1
allele frequency: 1.057686205656506e-5
allele num: 94546
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.96T>G
  hgvsp: ENST00000311124.4:c.96T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  hgvsc: ENST00000486303.1:n.70T>G
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.96T>G
  hgvsp: ENST00000443742.1:c.96T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.96T>G
  hgvsp: ENST00000528477.1:c.96T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.96T>G
  hgvsp: ENST00000427839.1:c.96T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.96T>G
  hgvsp: ENST00000380010.4:c.96T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.96T>G
  hgvsp: ENST00000567670.1:c.96T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10066
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11694
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11569
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18815
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1876
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1447
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3653
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2096
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu32Leu
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

21-46957789-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957789
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957789
    reference: chr 21
allele count: 3
allele frequency: 3.255985586837136e-5
allele num: 92138
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.85G>A
  hgvsp: ENSP00000308895.4:p.Val29Met
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.85G>A
  hgvsp: ENSP00000401850.1:p.Val29Met
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.85G>A
  hgvsp: ENSP00000369347.4:p.Val29Met
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.85G>A
  hgvsp: ENSP00000457278.1:p.Val29Met
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  hgvsc: ENST00000486303.1:n.59G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.85G>A
  hgvsp: ENSP00000411345.1:p.Val29Met
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.85G>A
  hgvsp: ENSP00000435780.1:p.Val29Met
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4820
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17571
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11413
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11895
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3804
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1600
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5132
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val29Met
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP

21-46957790-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957790
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957790
    reference: chr 21
allele count: 1
allele frequency: 1.081782778018174e-5
allele num: 92440
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.84C>T
  hgvsp: ENST00000380010.4:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.84C>T
  hgvsp: ENST00000567670.1:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.84C>T
  hgvsp: ENST00000311124.4:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.84C>T
  hgvsp: ENST00000443742.1:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  hgvsc: ENST00000486303.1:n.58C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.84C>T
  hgvsp: ENST00000528477.1:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.84C>T
  hgvsp: ENST00000427839.1:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11927
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11329
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4883
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1597
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3795
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2331
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu28Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

21-46957794-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957794
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957794
    reference: chr 21
allele count: 55723
allele frequency: 5.769740520615461e-1
allele num: 96578
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.80A>G
  hgvsp: ENSP00000411345.1:p.His27Arg
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.80A>G
  hgvsp: ENSP00000435780.1:p.His27Arg
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.80A>G
  hgvsp: ENSP00000308895.4:p.His27Arg
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.80A>G
  hgvsp: ENSP00000457278.1:p.His27Arg
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  hgvsc: ENST00000486303.1:n.54A>G
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.80A>G
  hgvsp: ENSP00000401850.1:p.His27Arg
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.80A>G
  hgvsp: ENSP00000369347.4:p.His27Arg
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 188
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 4.25e1
  variant carriers: 912
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 9.75e1
  variant carriers: 245
genotype depth: GenotypeDepth
  all individuals: 13921
  bin: 1.25e1
  variant carriers: 10841
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 115
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 3.75e1
  variant carriers: 1237
genotype depth: GenotypeDepth
  all individuals: 4864
  bin: 2.75e1
  variant carriers: 3913
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 4.75e1
  variant carriers: 729
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 3.25e1
  variant carriers: 1900
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 309
genotype depth: GenotypeDepth
  all individuals: 9135
  bin: 7.5e0
  variant carriers: 4332
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 2.5e0
  variant carriers: 339
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.75e1
  variant carriers: 412
genotype depth: GenotypeDepth
  all individuals: 13105
  bin: 1.75e1
  variant carriers: 11860
genotype depth: GenotypeDepth
  all individuals: 11032
  bin: 2.25e1
  variant carriers: 7933
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 151
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 5.25e1
  variant carriers: 584
genotype quality: GenotypeQuality
  all individuals: 6563
  bin: 2.25e1
  variant carriers: 1127
genotype quality: GenotypeQuality
  all individuals: 1475
  bin: 6.75e1
  variant carriers: 1229
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 7.5e0
  variant carriers: 363
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 1.25e1
  variant carriers: 412
genotype quality: GenotypeQuality
  all individuals: 1447
  bin: 2.75e1
  variant carriers: 850
genotype quality: GenotypeQuality
  all individuals: 2068
  bin: 5.25e1
  variant carriers: 1866
genotype quality: GenotypeQuality
  all individuals: 2229
  bin: 3.25e1
  variant carriers: 1609
hgvs: p.His27Arg
num of homozygotes: 15045
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

21-46957795-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957795
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957795
    reference: chr 21
allele count: 1
allele frequency: 1.316551687819264e-5
allele num: 75956
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.79C>T
  hgvsp: ENSP00000457278.1:p.His27Tyr
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  hgvsc: ENST00000486303.1:n.53C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.79C>T
  hgvsp: ENSP00000435780.1:p.His27Tyr
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.79C>T
  hgvsp: ENSP00000411345.1:p.His27Tyr
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.79C>T
  hgvsp: ENSP00000401850.1:p.His27Tyr
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.79C>T
  hgvsp: ENSP00000308895.4:p.His27Tyr
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.79C>T
  hgvsp: ENSP00000369347.4:p.His27Tyr
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14921
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19677
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9480
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6775
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1872
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2324
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2210
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26618
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3482
  bin: 3.25e1
  variant carriers: 0
hgvs: p.His27Tyr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD

21-46957798-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957798
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957798
    reference: chr 21
allele count: 2
allele frequency: 2.734631371691096e-5
allele num: 73136
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.76C>T
  hgvsp: ENSP00000308895.4:p.Arg26Trp
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.76C>T
  hgvsp: ENSP00000369347.4:p.Arg26Trp
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.76C>T
  hgvsp: ENSP00000435780.1:p.Arg26Trp
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.76C>T
  hgvsp: ENSP00000457278.1:p.Arg26Trp
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.76C>T
  hgvsp: ENSP00000411345.1:p.Arg26Trp
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.76C>T
  hgvsp: ENSP00000401850.1:p.Arg26Trp
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  hgvsc: ENST00000486303.1:n.50C>T
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20401
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5096
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15031
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3366
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3003
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2128
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12299
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2681
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg26Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

21-46957799-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957799
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957799
    reference: chr 21
allele count: 2
allele frequency: 2.71990425937007e-5
allele num: 73532
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.75G>A
  hgvsp: ENSP00000411345.1:p.Trp25Ter
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.75G>A
  hgvsp: ENSP00000401850.1:p.Trp25Ter
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  hgvsc: ENST00000486303.1:n.49G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.75G>A
  hgvsp: ENSP00000369347.4:p.Trp25Ter
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.75G>A
  hgvsp: ENSP00000308895.4:p.Trp25Ter
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.75G>A
  hgvsp: ENSP00000435780.1:p.Trp25Ter
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.75G>A
  hgvsp: ENSP00000457278.1:p.Trp25Ter
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20683
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14990
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4832
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2621
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3019
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27811
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3356
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12882
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Trp25Ter
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ

21-46957806-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957806
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957806
    reference: chr 21
allele count: 2
allele frequency: 2.877118278332422e-5
allele num: 69514
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.68G>A
  hgvsp: ENSP00000435780.1:p.Arg23Gln
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.68G>A
  hgvsp: ENSP00000411345.1:p.Arg23Gln
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  hgvsc: ENST00000486303.1:n.42G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.68G>A
  hgvsp: ENSP00000401850.1:p.Arg23Gln
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.68G>A
  hgvsp: ENSP00000308895.4:p.Arg23Gln
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.68G>A
  hgvsp: ENSP00000457278.1:p.Arg23Gln
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.68G>A
  hgvsp: ENSP00000369347.4:p.Arg23Gln
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8011
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4673
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21888
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1971
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3297
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3096
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11079
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg23Gln
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum

21-46957807-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957807
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957807
    reference: chr 21
allele count: 2
allele frequency: 2.932465323597548e-5
allele num: 68202
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.67C>T
  hgvsp: ENSP00000411345.1:p.Arg23Trp
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.67C>T
  hgvsp: ENSP00000308895.4:p.Arg23Trp
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  hgvsc: ENST00000486303.1:n.41C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.67C>T
  hgvsp: ENSP00000369347.4:p.Arg23Trp
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.67C>T
  hgvsp: ENSP00000457278.1:p.Arg23Trp
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.67C>T
  hgvsp: ENSP00000435780.1:p.Arg23Trp
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.67C>T
  hgvsp: ENSP00000401850.1:p.Arg23Trp
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4622
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7883
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1901
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3248
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28497
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg23Trp
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

21-46957810-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957810
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957810
    reference: chr 21
allele count: 1
allele frequency: 1.476058333825353e-5
allele num: 67748
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.64C>T
  hgvsp: ENSP00000457278.1:p.Leu22Phe
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.64C>T
  hgvsp: ENSP00000401850.1:p.Leu22Phe
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  hgvsc: ENST00000486303.1:n.38C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.64C>T
  hgvsp: ENSP00000435780.1:p.Leu22Phe
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.64C>T
  hgvsp: ENSP00000411345.1:p.Leu22Phe
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.64C>T
  hgvsp: ENSP00000308895.4:p.Leu22Phe
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.64C>T
  hgvsp: ENSP00000369347.4:p.Leu22Phe
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22724
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15079
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7871
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3437
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 10816
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1841
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 5.75e1
  variant carriers: 1
hgvs: p.Leu22Phe
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

21-46957813-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957813
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957813
    reference: chr 21
allele count: 1
allele frequency: 1.512813530604218e-5
allele num: 66102
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.61G>A
  hgvsp: ENSP00000457278.1:p.Glu21Lys
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.61G>A
  hgvsp: ENSP00000411345.1:p.Glu21Lys
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.61G>A
  hgvsp: ENSP00000308895.4:p.Glu21Lys
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.61G>A
  hgvsp: ENSP00000435780.1:p.Glu21Lys
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.61G>A
  hgvsp: ENSP00000401850.1:p.Glu21Lys
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  hgvsc: ENST00000486303.1:n.35G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.61G>A
  hgvsp: ENSP00000369347.4:p.Glu21Lys
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4131
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3536
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15050
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3086
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3630
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu21Lys
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

21-46957814-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957814
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957814
    reference: chr 21
allele count: 4
allele frequency: 6.078842588371174e-5
allele num: 65802
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.60C>T
  hgvsp: ENST00000528477.1:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.60C>T
  hgvsp: ENST00000311124.4:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.60C>T
  hgvsp: ENST00000567670.1:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.60C>T
  hgvsp: ENST00000443742.1:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.60C>T
  hgvsp: ENST00000427839.1:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  hgvsc: ENST00000486303.1:n.34C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.60C>T
  hgvsp: ENST00000380010.4:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3540
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4905
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3917
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14967
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7875
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3024
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3038
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29992
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro20Pro
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

21-46957816-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957816
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957816
    reference: chr 21
allele count: 1
allele frequency: 1.533930543624985e-5
allele num: 65192
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.58C>T
  hgvsp: ENSP00000411345.1:p.Pro20Ser
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.58C>T
  hgvsp: ENSP00000308895.4:p.Pro20Ser
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.58C>T
  hgvsp: ENSP00000401850.1:p.Pro20Ser
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  hgvsc: ENST00000486303.1:n.32C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.58C>T
  hgvsp: ENSP00000457278.1:p.Pro20Ser
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.58C>T
  hgvsp: ENSP00000435780.1:p.Pro20Ser
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.58C>T
  hgvsp: ENSP00000369347.4:p.Pro20Ser
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3713
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3673
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14980
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23674
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3760
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10705
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro20Ser
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

21-46957816-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957816
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957816
    reference: chr 21
allele count: 1
allele frequency: 1.533930543624985e-5
allele num: 65192
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.58C>A
  hgvsp: ENSP00000308895.4:p.Pro20Thr
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.58C>A
  hgvsp: ENSP00000457278.1:p.Pro20Thr
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.58C>A
  hgvsp: ENSP00000401850.1:p.Pro20Thr
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.58C>A
  hgvsp: ENSP00000411345.1:p.Pro20Thr
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.58C>A
  hgvsp: ENSP00000435780.1:p.Pro20Thr
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.58C>A
  hgvsp: ENSP00000369347.4:p.Pro20Thr
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  hgvsc: ENST00000486303.1:n.32C>A
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23674
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14980
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3673
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3713
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2998
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30491
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro20Thr
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

21-46957817-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957817
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957817
    reference: chr 21
allele count: 0
allele frequency: 0.0e0
allele num: 64534
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.57C>T
  hgvsp: ENST00000528477.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.57C>T
  hgvsp: ENST00000380010.4:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.57C>T
  hgvsp: ENST00000427839.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.57C>T
  hgvsp: ENST00000311124.4:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.57C>T
  hgvsp: ENST00000443742.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  hgvsc: ENST00000486303.1:n.31C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.57C>T
  hgvsp: ENST00000567670.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7518
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15058
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3742
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23818
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3013
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp19Asp
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
reference allele: G
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

21-46957821-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957821
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957821
    reference: chr 21
allele count: 1
allele frequency: 1.575348939790164e-5
allele num: 63478
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.53C>G
  hgvsp: ENSP00000411345.1:p.Pro18Arg
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  hgvsc: ENST00000486303.1:n.27C>G
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.53C>G
  hgvsp: ENSP00000401850.1:p.Pro18Arg
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.53C>G
  hgvsp: ENSP00000457278.1:p.Pro18Arg
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.53C>G
  hgvsp: ENSP00000369347.4:p.Pro18Arg
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.53C>G
  hgvsp: ENSP00000435780.1:p.Pro18Arg
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.53C>G
  hgvsp: ENSP00000308895.4:p.Pro18Arg
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3416
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24209
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4046
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15010
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7505
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4119
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31194
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2900
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro18Arg
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

21-46957821-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957821
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957821
    reference: chr 21
allele count: 1
allele frequency: 1.575348939790164e-5
allele num: 63478
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.53C>A
  hgvsp: ENSP00000369347.4:p.Pro18His
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.53C>A
  hgvsp: ENSP00000308895.4:p.Pro18His
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.53C>A
  hgvsp: ENSP00000411345.1:p.Pro18His
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.53C>A
  hgvsp: ENSP00000435780.1:p.Pro18His
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.53C>A
  hgvsp: ENSP00000401850.1:p.Pro18His
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  hgvsc: ENST00000486303.1:n.27C>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.53C>A
  hgvsp: ENSP00000457278.1:p.Pro18His
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7505
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3416
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15010
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4046
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4119
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31194
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3034
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro18His
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

21-46957824-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957824
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957824
    reference: chr 21
allele count: 1
allele frequency: 1.632813010254066e-5
allele num: 61244
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.50G>A
  hgvsp: ENSP00000401850.1:p.Gly17Glu
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.50G>A
  hgvsp: ENSP00000411345.1:p.Gly17Glu
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.50G>A
  hgvsp: ENSP00000457278.1:p.Gly17Glu
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  hgvsc: ENST00000486303.1:n.24G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.50G>A
  hgvsp: ENSP00000435780.1:p.Gly17Glu
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.50G>A
  hgvsp: ENSP00000308895.4:p.Gly17Glu
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.50G>A
  hgvsp: ENSP00000369347.4:p.Gly17Glu
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4456
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24671
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3330
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6931
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9157
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2902
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31322
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4560
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly17Glu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

21-46957835-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957835
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957835
    reference: chr 21
allele count: 0
allele frequency: 0.0e0
allele num: 56600
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.39C>T
  hgvsp: ENST00000380010.4:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173638
  ensembl transcript: ENST00000486303
  gene symbol: SLC19A1
  hgvsc: ENST00000486303.1:n.13C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.39C>T
  hgvsp: ENST00000311124.4:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.39C>T
  hgvsp: ENST00000528477.1:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.39C>T
  hgvsp: ENST00000443742.1:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.39C>T
  hgvsp: ENST00000427839.1:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.39C>T
  hgvsp: ENST00000567670.1:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 15018
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26001
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3431
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5340
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32930
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8177
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro13Pro
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

21-46957854-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957854
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957854
    reference: chr 21
allele count: 1
allele frequency: 2.072367057653252e-5
allele num: 48254
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.20C>T
  hgvsp: ENSP00000308895.4:p.Ala7Val
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.20C>T
  hgvsp: ENSP00000401850.1:p.Ala7Val
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.20C>T
  hgvsp: ENSP00000411345.1:p.Ala7Val
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.20C>T
  hgvsp: ENSP00000457278.1:p.Ala7Val
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.20C>T
  hgvsp: ENSP00000435780.1:p.Ala7Val
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.20C>T
  hgvsp: ENSP00000369347.4:p.Ala7Val
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7769
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27569
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4434
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2637
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2159
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala7Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: G
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

21-46957860-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957860
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957860
    reference: chr 21
allele count: 1
allele frequency: 2.177415842877673e-5
allele num: 45926
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.14G>A
  hgvsp: ENSP00000457278.1:p.Ser5Asn
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.14G>A
  hgvsp: ENSP00000369347.4:p.Ser5Asn
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.14G>A
  hgvsp: ENSP00000308895.4:p.Ser5Asn
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.14G>A
  hgvsp: ENSP00000435780.1:p.Ser5Asn
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.14G>A
  hgvsp: ENSP00000401850.1:p.Ser5Asn
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.14G>A
  hgvsp: ENSP00000411345.1:p.Ser5Asn
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27672
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8953
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34901
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4342
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2069
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9051
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2196
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser5Asn
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

21-46957869-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957869
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957869
    reference: chr 21
allele count: 1
allele frequency: 2.342139778902005e-5
allele num: 42696
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.5T>C
  hgvsp: ENSP00000308895.4:p.Val2Ala
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.5T>C
  hgvsp: ENSP00000435780.1:p.Val2Ala
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.5T>C
  hgvsp: ENSP00000457278.1:p.Val2Ala
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.5T>C
  hgvsp: ENSP00000401850.1:p.Val2Ala
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.5T>C
  hgvsp: ENSP00000411345.1:p.Val2Ala
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.5T>C
  hgvsp: ENSP00000369347.4:p.Val2Ala
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15065
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27406
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10668
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10891
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3666
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34661
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2366
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2089
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val2Ala
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

21-46957873-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957873
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957873
    reference: chr 21
allele count: 3
allele frequency: 7.193209610128039e-5
allele num: 41706
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1A>G
  hgvsp: ENSP00000457278.1:p.Met1?
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.1A>G
  hgvsp: ENSP00000411345.1:p.Met1?
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.1A>G
  hgvsp: ENSP00000308895.4:p.Met1?
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.1A>G
  hgvsp: ENSP00000369347.4:p.Met1?
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.1A>G
  hgvsp: ENSP00000401850.1:p.Met1?
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.1A>G
  hgvsp: ENSP00000435780.1:p.Met1?
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27098
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14906
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11684
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3438
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1659
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD

21-46957881-AGGCCACGTGCAGCTCCGGAGGGGACGAAGGTGACGCTGTGCCTGGAAGGAGGGGTGGAGTCAGGGCACCTT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957881
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957810
    reference: chr 21
allele count: 1
allele frequency: 2.627292312542693e-5
allele num: 38062
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: 5_prime_UTR_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: 5_prime_UTR_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  consequence: 5_prime_UTR_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: 5_prime_UTR_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: 5_prime_UTR_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: 5_prime_UTR_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: splice acceptor
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14343
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14737
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25535
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2110
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15195
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1952
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31483
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2293
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: AGGCCACGTGCAGCTCCGGAGGGGACGAAGGTGACGCTGTGCCTGGAAGGAGGGGTGGAGTCAGGGCACCTT
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum

21-46957885-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957885
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957885
    reference: chr 21
allele count: 29
allele frequency: 8.228817887747573e-4
allele num: 35242
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.-12G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.-12G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.-12G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.-12G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.-12G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.-12G>A
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24914
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13585
  bin: 1.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 16471
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2375
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2129
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29421
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 9.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 2347
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

21-46957888-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957888
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957888
    reference: chr 21
allele count: 2
allele frequency: 6.272345229881452e-5
allele num: 31886
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.-15C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.-15C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.-15C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.-15C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.-15C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.-15C>T
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12393
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24186
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18500
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1738
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 19263
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25825
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3199
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

21-46957888-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957888
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957888
    reference: chr 21
allele count: 1
allele frequency: 3.136172614940726e-5
allele num: 31886
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.-15C>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.-15C>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.-15C>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.-15C>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.-15C>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.-15C>A
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18500
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12393
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25825
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19263
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1738
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3040
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum

21-46957889-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957889
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957889
    reference: chr 21
allele count: 1
allele frequency: 3.1187624750499e-5
allele num: 32064
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.-16A>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.-16A>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.-16A>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.-16A>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.-16A>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.-16A>T
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18568
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2709
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1806
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1464
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1983
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3003
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26424
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19370
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

21-46957894-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957894
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957894
    reference: chr 21
allele count: 1
allele frequency: 3.475118154017237e-5
allele num: 28776
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.-21G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.-21G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.-21G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.-21G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.-21G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.-21G>A
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23804
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20273
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11001
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1866
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23550
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1377
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3838
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

21-46957895-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957895
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957895
    reference: chr 21
allele count: 1
allele frequency: 3.541578127213486e-5
allele num: 28236
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.-22A>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.-22A>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.-22A>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.-22A>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.-22A>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.-22A>T
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10703
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23716
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20640
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4070
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22813
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21825
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

21-46957899-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957899
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957899
    reference: chr 21
allele count: 1
allele frequency: 4.050550874918989e-5
allele num: 24688
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.-26C>G
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.-26C>G
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.-26C>G
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.-26C>G
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.-26C>G
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.-26C>G
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23856
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21735
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9153
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1728
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5122
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23133
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19403
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1362
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

21-46957902-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957902
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957902
    reference: chr 21
allele count: 1
allele frequency: 4.347448047995827e-5
allele num: 23002
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.-29C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.-29C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.-29C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.-29C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.-29C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.-29C>T
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8337
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24094
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22029
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1642
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3834
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5821
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23584
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17514
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

21-46957906-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957906
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957906
    reference: chr 21
allele count: 9
allele frequency: 4.575960951799878e-4
allele num: 19668
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.-33G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.-33G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.-33G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.-33G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.-33G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.-33G>A
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22021
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24940
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6873
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1680
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6790
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13891
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5546
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23547
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 9.75e1
  variant carriers: 7
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

21-46957907-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957907
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957907
    reference: chr 21
allele count: 2
allele frequency: 1.02364622786365e-4
allele num: 19538
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.-34C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.-34C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.-34C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.-34C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.-34C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.-34C>T
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25013
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6763
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22060
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23654
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1579
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6828
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5402
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13989
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

21-46957910-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957910
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957910
    reference: chr 21
allele count: 0
allele frequency: 0.0e0
allele num: 18314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.-37C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.-37C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.-37C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.-37C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.-37C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.-37C>T
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21774
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6207
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25309
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7314
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23165
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1363
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11647
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD

21-46957911-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957911
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957912
    reference: chr 21
allele count: 0
allele frequency: 0.0e0
allele num: 17532
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.-39dupA
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.-39dupA
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.-39dupA
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.-39dupA
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.-39dupA
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.-39dupA
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25440
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21601
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5952
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2023
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7563
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1490
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22665
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

21-46957912-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957912
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957912
    reference: chr 21
allele count: 0
allele frequency: 0.0e0
allele num: 17614
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.-39A>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.-39A>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.-39A>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.-39A>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.-39A>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.-39A>T
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5951
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25452
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21607
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22782
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10575
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7800
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7542
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1888
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1363
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

21-46957915-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957915
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957915
    reference: chr 21
allele count: 0
allele frequency: 0.0e0
allele num: 16932
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.-42G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.-42G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.-42G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.-42G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.-42G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.-42G>A
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5874
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25475
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8881
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1491
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7573
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22184
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2265
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9289
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

21-46957916-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46957916
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46957916
    reference: chr 21
allele count: 9592
allele frequency: 5.44010889292196e-1
allele num: 17632
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000411345
  ensembl transcript: ENST00000443742
  gene symbol: SLC19A1
  hgvsc: ENST00000443742.1:c.-43C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000308895
  ensembl transcript: ENST00000311124
  gene symbol: SLC19A1
  hgvsc: ENST00000311124.4:c.-43C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000401850
  ensembl transcript: ENST00000427839
  gene symbol: SLC19A1
  hgvsc: ENST00000427839.1:c.-43C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.-43C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000435780
  ensembl transcript: ENST00000528477
  gene symbol: SLC19A1
  hgvsc: ENST00000528477.1:c.-43C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000369347
  ensembl transcript: ENST00000380010
  gene symbol: SLC19A1
  hgvsc: ENST00000380010.4:c.-43C>T
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.25e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 3.25e1
  variant carriers: 210
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 2.25e1
  variant carriers: 563
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 3.75e1
  variant carriers: 107
genotype depth: GenotypeDepth
  all individuals: 17389
  bin: 2.5e0
  variant carriers: 6159
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 26285
  bin: 7.5e0
  variant carriers: 17235
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 1.75e1
  variant carriers: 1028
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 2.75e1
  variant carriers: 351
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5990
  bin: 1.25e1
  variant carriers: 4730
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 6.25e1
  variant carriers: 945
genotype quality: GenotypeQuality
  all individuals: 1790
  bin: 3.25e1
  variant carriers: 1540
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 3.75e1
  variant carriers: 552
genotype quality: GenotypeQuality
  all individuals: 2159
  bin: 2.75e1
  variant carriers: 1892
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 5.25e1
  variant carriers: 497
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 4.25e1
  variant carriers: 216
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 7.25e1
  variant carriers: 531
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 4.75e1
  variant carriers: 380
genotype quality: GenotypeQuality
  all individuals: 9975
  bin: 2.5e0
  variant carriers: 51
genotype quality: GenotypeQuality
  all individuals: 6031
  bin: 1.75e1
  variant carriers: 4861
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 7.75e1
  variant carriers: 483
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 5.75e1
  variant carriers: 732
genotype quality: GenotypeQuality
  all individuals: 4300
  bin: 1.25e1
  variant carriers: 2761
num of homozygotes: 2498
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

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

GenotypeQuality
all individuals: 1242
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1417
bin: 1.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 90
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.66e-2

DP
type: SiteQuality
SIO_000300: 1.40858e5

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.98e-1

QD
type: SiteQuality
SIO_000300: 1.449e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

GenotypeQuality
all individuals: 703
bin: 1.75e1
variant carriers: 8

GenotypeQuality
all individuals: 31017
bin: 7.5e0
variant carriers: 5

GenotypeQuality
all individuals: 5
bin: 7.25e1
variant carriers: 5

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

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

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 4

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 4

Latino
type: Population
allele count: 8
allele frequency: 1.666666666666667e-1
allele num: 48
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 4.347826086956522e-2
allele num: 46
num of homozygotes: 0

East Asian
type: Population
allele count: 8
allele frequency: 1.428571428571428e-1
allele num: 56
num of homozygotes: 0

African
type: Population
allele count: 16
allele frequency: 2.222222222222222e-1
allele num: 72
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 74
allele frequency: 2.913385826771653e-1
allele num: 254
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 3.333333333333333e-1
allele num: 6
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

MQRankSum
type: SiteQuality
SIO_000300: -1.38e0

VQSLOD
type: SiteQuality
SIO_000300: -1.676e1

FS
type: SiteQuality
SIO_000300: 6.3959e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.182e-1

QD
type: SiteQuality
SIO_000300: 1.654e1

MQ
type: SiteQuality
SIO_000300: 5.065e1

DP
type: SiteQuality
SIO_000300: 1.45435e5

GenotypeQuality
all individuals: 1
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 8.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 6
allele frequency: 5.084745762711865e-2
allele num: 118
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 148
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.09e-1

FS
type: SiteQuality
SIO_000300: 1.426e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.19e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.418e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.47e-1

DP
type: SiteQuality
SIO_000300: 1.6009e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.854e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 3
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 78
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 918
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 1.293103448275862e-2
allele num: 232
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 140
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.36e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

FS
type: SiteQuality
SIO_000300: 7.46e0

DP
type: SiteQuality
SIO_000300: 2.01643e5

VQSLOD
type: SiteQuality
SIO_000300: -1.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

QD
type: SiteQuality
SIO_000300: 1.23e1

GenotypeQuality
all individuals: 35
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1
bin: 9.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 4.651162790697674e-3
allele num: 430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1630
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -9.115e-1

QD
type: SiteQuality
SIO_000300: 4.13e0

DP
type: SiteQuality
SIO_000300: 2.45094e5

FS
type: SiteQuality
SIO_000300: 1.996e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.84e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

GenotypeQuality
all individuals: 1647
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31750
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1630
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 430
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.84e-2

VQSLOD
type: SiteQuality
SIO_000300: -9.115e-1

FS
type: SiteQuality
SIO_000300: 1.996e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

DP
type: SiteQuality
SIO_000300: 2.45094e5

QD
type: SiteQuality
SIO_000300: 4.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

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

GenotypeQuality
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 420
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 526
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 258
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.557885141294439e-4
allele num: 2194
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.4e-1

DP
type: SiteQuality
SIO_000300: 2.81056e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.43e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.55e-1

MQ
type: SiteQuality
SIO_000300: 5.855e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.034e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.4e-1

QD
type: SiteQuality
SIO_000300: 1.868e1

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 4

GenotypeQuality
all individuals: 9
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 811
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 58
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 19
bin: 9.75e1
variant carriers: 16

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 484
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 82
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 5.050505050505051e-3
allele num: 396
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 4.615384615384616e-3
allele num: 2600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

DP
type: SiteQuality
SIO_000300: 3.08948e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.91e-2

FS
type: SiteQuality
SIO_000300: 3.577e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

QD
type: SiteQuality
SIO_000300: 1.193e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

GenotypeQuality
all individuals: 1543
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1090
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 82
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.846153846153846e-4
allele num: 2600
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 396
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.08948e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.91e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

FS
type: SiteQuality
SIO_000300: 3.577e0

QD
type: SiteQuality
SIO_000300: 1.193e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

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

GenotypeQuality
all individuals: 986
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 179
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31187
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 957
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4556
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 1.03359173126615e-2
allele num: 774
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.572327044025157e-3
allele num: 636
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.6213e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

FS
type: SiteQuality
SIO_000300: 2.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.25e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.99e-1

QD
type: SiteQuality
SIO_000300: 1.104e1

GenotypeQuality
all individuals: 957
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 887
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1255
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.194907813871817e-4
allele num: 4556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.6213e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.25e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

QD
type: SiteQuality
SIO_000300: 1.104e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.5e-3

FS
type: SiteQuality
SIO_000300: 2.01e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2099
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3320
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 880
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1242
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1660
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9192
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1356
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 108
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 436
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1674
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 1.267e1

FS
type: SiteQuality
SIO_000300: 2.147e0

DP
type: SiteQuality
SIO_000300: 4.49526e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.43e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.98e0

GenotypeQuality
all individuals: 35605
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 880
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 10
bin: 8.75e1
variant carriers: 1

African
type: Population
allele count: 5
allele frequency: 3.687315634218289e-3
allele num: 1356
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 108
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1674
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 436
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.610305958132045e-3
allele num: 1242
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.087902523933855e-4
allele num: 9192
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 1.807228915662651e-3
allele num: 1660
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.267e1

FS
type: SiteQuality
SIO_000300: 2.147e0

DP
type: SiteQuality
SIO_000300: 4.49526e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.43e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.98e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1030
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 65
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2180
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 116
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 482
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.784260515603799e-4
allele num: 1474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10556
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1864
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1946
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.51e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.26e1

DP
type: SiteQuality
SIO_000300: 4.61736e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.448e0

VQSLOD
type: SiteQuality
SIO_000300: -3.738e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.448e0

GenotypeQuality
all individuals: 28
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30329
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1796
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 566
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4328
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4618
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 310
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.619172341540073e-4
allele num: 3818
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5230
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 7.001820473323065e-5
allele num: 28564
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.09e-2

FS
type: SiteQuality
SIO_000300: 2.93e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

VQSLOD
type: SiteQuality
SIO_000300: 8.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.763e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-1

DP
type: SiteQuality
SIO_000300: 7.09724e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.13e-1

QD
type: SiteQuality
SIO_000300: 9.970000000000001e0

GenotypeQuality
all individuals: 330
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 184
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1013
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28866
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 28
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3762
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.265199503689675e-5
allele num: 30626
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4122
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1646
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5670
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5064
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4606
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.41443e5

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

MQRankSum
type: SiteQuality
SIO_000300: -6.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.06e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.018e0

QD
type: SiteQuality
SIO_000300: 1.534e1

FS
type: SiteQuality
SIO_000300: 6.919e0

MQ
type: SiteQuality
SIO_000300: 5.888e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

GenotypeQuality
all individuals: 405
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27715
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 275
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1162
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1780
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5516
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.021018593371059e-4
allele num: 4948
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.28310502283105e-4
allele num: 4380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 3.048594597890372e-4
allele num: 32802
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6052
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 7.52e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.149e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.73e-1

QD
type: SiteQuality
SIO_000300: 1.193e1

DP
type: SiteQuality
SIO_000300: 7.6939e5

GenotypeQuality
all individuals: 247
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25721
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 20
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 494
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variant carriers: 0

GenotypeQuality
all individuals: 97
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variant carriers: 0

GenotypeQuality
all individuals: 2967
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1486
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
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variant carriers: 0

GenotypeQuality
all individuals: 23421
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6264
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 382
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1986
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.609154139555755e-5
allele num: 35656
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5350
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 3.014772384684956e-4
allele num: 6634
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4760
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.52e-1

QD
type: SiteQuality
SIO_000300: 6.86e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

FS
type: SiteQuality
SIO_000300: 2.139e0

VQSLOD
type: SiteQuality
SIO_000300: 1.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.699999999999999e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.9e-2

DP
type: SiteQuality
SIO_000300: 8.14008e5

GenotypeQuality
all individuals: 181
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 111
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variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24205
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 858
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1550
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1382
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25394
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6882
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37952
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5668
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 416
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5060
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.413627367825841e-4
allele num: 7074
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2226
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.083e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.55e-1

QD
type: SiteQuality
SIO_000300: 2.86e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

FS
type: SiteQuality
SIO_000300: 8.221e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.44106e5

GenotypeQuality
all individuals: 142
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 779
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1394
bin: 2.75e1
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GenotypeQuality
all individuals: 35
bin: 9.25e1
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GenotypeQuality
all individuals: 1753
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 4.75e1
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GenotypeQuality
all individuals: 18
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GenotypeQuality
all individuals: 45
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1275
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2542
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7738
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5526
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.413942934389031e-5
allele num: 41426
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6132
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.53e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.63e-1

QD
type: SiteQuality
SIO_000300: 9.119999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.74e-1

DP
type: SiteQuality
SIO_000300: 8.96684e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

GenotypeQuality
all individuals: 349
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2340
bin: 7.5e0
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GenotypeQuality
all individuals: 195
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 779
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 8.25e1
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GenotypeQuality
all individuals: 1753
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 1

GenotypeQuality
all individuals: 757
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2542
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5526
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7738
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.630789302022179e-4
allele num: 6132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41426
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7892
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.96684e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.96e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.53e0

QD
type: SiteQuality
SIO_000300: 9.119999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 8.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

GenotypeQuality
all individuals: 374
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2211
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20936
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1375
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 28232
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1812
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.4194464158978e-4
allele num: 42270
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7890
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6254
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5654
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e0

FS
type: SiteQuality
SIO_000300: 1.59e0

VQSLOD
type: SiteQuality
SIO_000300: -8.401e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.7e-3

DP
type: SiteQuality
SIO_000300: 9.09246e5

MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

MQ
type: SiteQuality
SIO_000300: 5.861e1

QD
type: SiteQuality
SIO_000300: 9.630000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.9e-1

GenotypeQuality
all individuals: 150
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 991
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1387
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2195
bin: 7.5e0
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GenotypeQuality
all individuals: 123
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1825
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 790
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6290
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5712
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.194172438500119e-4
allele num: 8374
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42566
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7932
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.1539e5

ClippingRankSum
type: SiteQuality
SIO_000300: -8.29e-1

FS
type: SiteQuality
SIO_000300: 9.370000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

QD
type: SiteQuality
SIO_000300: 4.95e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.886e0

VQSLOD
type: SiteQuality
SIO_000300: -2.072e0

MQ
type: SiteQuality
SIO_000300: 5.906e1

MQRankSum
type: SiteQuality
SIO_000300: 7.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

GenotypeQuality
all individuals: 321
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27771
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2130
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1405
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1815
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 95
bin: 9.75e1
variant carriers: 69

GenotypeQuality
all individuals: 788
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 453
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 7.25e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8692
num of homozygotes: 0

African
type: Population
allele count: 58
allele frequency: 9.857239972807614e-3
allele num: 5884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.387604070305273e-4
allele num: 43240
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6390
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 6.194251734390486e-4
allele num: 8072
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2708
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.299999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.93e0

FS
type: SiteQuality
SIO_000300: 1.452e0

QD
type: SiteQuality
SIO_000300: 1.24e1

DP
type: SiteQuality
SIO_000300: 9.35017e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2130
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1156
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1405
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 34
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1815
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1383
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 388
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27771
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8692
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 1.529571719918423e-3
allele num: 5884
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8072
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 3.692762186115214e-4
allele num: 2708
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.129890453834116e-4
allele num: 6390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.312673450508788e-5
allele num: 43240
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

DP
type: SiteQuality
SIO_000300: 9.35017e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.299999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.75e-1

QD
type: SiteQuality
SIO_000300: 1.24e1

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

FS
type: SiteQuality
SIO_000300: 1.452e0

VQSLOD
type: SiteQuality
SIO_000300: 3.93e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 232
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 855
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 425
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1376
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28734
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variant carriers: 0

GenotypeQuality
all individuals: 1116
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
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variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1955
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.534119247336205e-5
allele num: 44110
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5978
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8184
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2780
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9102
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6472
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.25e-1

FS
type: SiteQuality
SIO_000300: 4.554e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.33e-1

DP
type: SiteQuality
SIO_000300: 9.47769e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.7e-3

QD
type: SiteQuality
SIO_000300: 1.009e1

GenotypeQuality
all individuals: 18499
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1391
bin: 2.75e1
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GenotypeQuality
all individuals: 840
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2068
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variant carriers: 0

GenotypeQuality
all individuals: 430
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variant carriers: 0

GenotypeQuality
all individuals: 234
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variant carriers: 0

GenotypeQuality
all individuals: 472
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variant carriers: 0

GenotypeQuality
all individuals: 1402
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1136
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.514233797698365e-4
allele num: 6604
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45328
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6188
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2900
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9680
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

DP
type: SiteQuality
SIO_000300: 9.69345e5

FS
type: SiteQuality
SIO_000300: 8.805999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.1e-3

MQ
type: SiteQuality
SIO_000300: 5.928e1

VQSLOD
type: SiteQuality
SIO_000300: -1.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.3e-2

QD
type: SiteQuality
SIO_000300: 4.6e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.17e-1

GenotypeQuality
all individuals: 539
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 547
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variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32816
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variant carriers: 0

GenotypeQuality
all individuals: 1386
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16048
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variant carriers: 0

GenotypeQuality
all individuals: 202
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variant carriers: 0

GenotypeQuality
all individuals: 70
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variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.050440844781628e-5
allele num: 48770
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11358
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6936
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6668
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8890
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 586
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

MQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

QD
type: SiteQuality
SIO_000300: 1.724e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.177e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e-1

DP
type: SiteQuality
SIO_000300: 1.021429e6

VQSLOD
type: SiteQuality
SIO_000300: 1.36e-1

GenotypeQuality
all individuals: 235
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 488
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GenotypeQuality
all individuals: 226
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GenotypeQuality
all individuals: 1527
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 650
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variant carriers: 0

GenotypeQuality
all individuals: 1507
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 34
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 75
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 925
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 604
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.106439477760567e-4
allele num: 9038
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6892
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7048
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11918
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50012
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3318
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.938e1

MQ
type: SiteQuality
SIO_000300: 5.938e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.525e0

DP
type: SiteQuality
SIO_000300: 1.039002e6

FS
type: SiteQuality
SIO_000300: 3.224e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -4.375e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-1

GenotypeQuality
all individuals: 267
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1161
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2602
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1165
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15064
bin: 2.25e1
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GenotypeQuality
all individuals: 56
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 887
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7088
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.944150824327522e-5
allele num: 50708
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3364
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9100
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7048
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.145975887911372e-5
allele num: 12276
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.043277e6

MQRankSum
type: SiteQuality
SIO_000300: -1.013e0

FS
type: SiteQuality
SIO_000300: 8.34e-1

QD
type: SiteQuality
SIO_000300: 9.49e0

VQSLOD
type: SiteQuality
SIO_000300: 7.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.752e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.72e-1

GenotypeQuality
all individuals: 2019
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14882
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1381
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29695
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1362
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 924
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 248
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9140
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3364
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7154
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7122
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.950154062170911e-5
allele num: 51278
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12636
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.43e-1

MQ
type: SiteQuality
SIO_000300: 5.54e1

VQSLOD
type: SiteQuality
SIO_000300: -3.517e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.26e-1

FS
type: SiteQuality
SIO_000300: 7.858e0

QD
type: SiteQuality
SIO_000300: 1.612e1

DP
type: SiteQuality
SIO_000300: 1.043225e6

GenotypeQuality
all individuals: 1290
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 590
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1346
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 3357
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
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GenotypeQuality
all individuals: 26519
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variant carriers: 0

GenotypeQuality
all individuals: 85
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variant carriers: 0

GenotypeQuality
all individuals: 2464
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variant carriers: 0

GenotypeQuality
all individuals: 1079
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7472
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13332
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52666
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3490
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.388503193557345e-4
allele num: 7202
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9152
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

DP
type: SiteQuality
SIO_000300: 1.046383e6

MQ
type: SiteQuality
SIO_000300: 5.903e1

VQSLOD
type: SiteQuality
SIO_000300: -2.381e0

FS
type: SiteQuality
SIO_000300: 6.64e0

MQRankSum
type: SiteQuality
SIO_000300: -2.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.516e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.98e-1

QD
type: SiteQuality
SIO_000300: 3.0e0

GenotypeQuality
all individuals: 1010
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 102
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variant carriers: 0

GenotypeQuality
all individuals: 1328
bin: 7.5e0
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GenotypeQuality
all individuals: 71
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
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variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 7.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3608
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9112
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.398992725237829e-4
allele num: 7148
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.762227238525207e-5
allele num: 53160
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13462
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.49e0

DP
type: SiteQuality
SIO_000300: 1.029512e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

FS
type: SiteQuality
SIO_000300: 1.0452e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.682e0

VQSLOD
type: SiteQuality
SIO_000300: -1.952e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

GenotypeQuality
all individuals: 19706
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4282
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 899
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variant carriers: 0

GenotypeQuality
all individuals: 1535
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variant carriers: 0

GenotypeQuality
all individuals: 582
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variant carriers: 0

GenotypeQuality
all individuals: 527
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variant carriers: 0

GenotypeQuality
all individuals: 16062
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GenotypeQuality
all individuals: 304
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variant carriers: 0

GenotypeQuality
all individuals: 536
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variant carriers: 0

GenotypeQuality
all individuals: 98
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variant carriers: 0

GenotypeQuality
all individuals: 5296
bin: 3.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7554
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7112
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.880972086374238e-5
allele num: 53164
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3602
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.425e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.858e0

VQSLOD
type: SiteQuality
SIO_000300: -2.326e-1

QD
type: SiteQuality
SIO_000300: 9.609999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

DP
type: SiteQuality
SIO_000300: 9.95161e5

GenotypeQuality
all individuals: 14885
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3900
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2786
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 548
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GenotypeQuality
all individuals: 309
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GenotypeQuality
all individuals: 100
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variant carriers: 0

GenotypeQuality
all individuals: 5646
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variant carriers: 0

GenotypeQuality
all individuals: 1882
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variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2318
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12616
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.513088213042821e-4
allele num: 13218
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.926040061633282e-5
allele num: 51920
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6836
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8686
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7370
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.439e0

FS
type: SiteQuality
SIO_000300: 7.059e0

VQSLOD
type: SiteQuality
SIO_000300: 4.23e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

QD
type: SiteQuality
SIO_000300: 1.178e1

MQ
type: SiteQuality
SIO_000300: 5.915e1

DP
type: SiteQuality
SIO_000300: 9.72888e5

GenotypeQuality
all individuals: 5130
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15143
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5649
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1716
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1912
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variant carriers: 0

GenotypeQuality
all individuals: 2541
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variant carriers: 0

GenotypeQuality
all individuals: 80
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GenotypeQuality
all individuals: 13382
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variant carriers: 0

GenotypeQuality
all individuals: 3858
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variant carriers: 0

GenotypeQuality
all individuals: 103
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7380
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.544892108042855e-5
allele num: 13254
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6864
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8734
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52066
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.845e1

QD
type: SiteQuality
SIO_000300: 2.748e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.734e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.452e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.845e0

DP
type: SiteQuality
SIO_000300: 9.73677e5

GenotypeQuality
all individuals: 719
bin: 7.25e1
variant carriers: 682

GenotypeQuality
all individuals: 1751
bin: 2.5e0
variant carriers: 236

GenotypeQuality
all individuals: 2255
bin: 3.75e1
variant carriers: 1848

GenotypeQuality
all individuals: 698
bin: 9.25e1
variant carriers: 694

GenotypeQuality
all individuals: 2288
bin: 4.75e1
variant carriers: 2035

GenotypeQuality
all individuals: 26322
bin: 9.75e1
variant carriers: 26321

GenotypeQuality
all individuals: 921
bin: 8.25e1
variant carriers: 906

GenotypeQuality
all individuals: 1258
bin: 4.25e1
variant carriers: 1101

GenotypeQuality
all individuals: 653
bin: 8.75e1
variant carriers: 651

GenotypeQuality
all individuals: 1047
bin: 7.75e1
variant carriers: 1007

GenotypeQuality
all individuals: 1030
bin: 1.75e1
variant carriers: 757

GenotypeQuality
all individuals: 1072
bin: 5.75e1
variant carriers: 989

GenotypeQuality
all individuals: 4684
bin: 6.25e1
variant carriers: 1469

Other
type: Population
allele count: 386
allele frequency: 5.727002967359051e-1
allele num: 674
num of homozygotes: 99

African
type: Population
allele count: 3235
allele frequency: 4.154893398407398e-1
allele num: 7786
num of homozygotes: 616

European (Finnish)
type: Population
allele count: 2402
allele frequency: 6.026091319618665e-1
allele num: 3986
num of homozygotes: 645

Latino
type: Population
allele count: 5280
allele frequency: 5.90339892665474e-1
allele num: 8944
num of homozygotes: 1415

South Asian
type: Population
allele count: 8488
allele frequency: 6.065456624267543e-1
allele num: 13994
num of homozygotes: 2518

European (Non-Finnish)
type: Population
allele count: 32360
allele frequency: 5.962339241625825e-1
allele num: 54274
num of homozygotes: 8949

East Asian
type: Population
allele count: 3572
allele frequency: 5.161849710982659e-1
allele num: 6920
num of homozygotes: 803

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e-1

QD
type: SiteQuality
SIO_000300: 2.023e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.42e-1

FS
type: SiteQuality
SIO_000300: 1.753e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.167342e6

MQRankSum
type: SiteQuality
SIO_000300: 4.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.31e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.64e0

GenotypeQuality
all individuals: 1037
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
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variant carriers: 0

GenotypeQuality
all individuals: 492
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variant carriers: 0

GenotypeQuality
all individuals: 742
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variant carriers: 0

GenotypeQuality
all individuals: 226
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GenotypeQuality
all individuals: 479
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GenotypeQuality
all individuals: 68
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GenotypeQuality
all individuals: 13411
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variant carriers: 0

GenotypeQuality
all individuals: 848
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variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 8.75e1
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GenotypeQuality
all individuals: 2991
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2632
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5566
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.482359916987845e-4
allele num: 6746
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11930
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 504
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6314
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42264
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

FS
type: SiteQuality
SIO_000300: 2.815e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.63e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.77e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.205e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

MQ
type: SiteQuality
SIO_000300: 5.746e1

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-1

DP
type: SiteQuality
SIO_000300: 8.83808e5

QD
type: SiteQuality
SIO_000300: 6.81e0

GenotypeQuality
all individuals: 925
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 27153
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1140
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variant carriers: 0

GenotypeQuality
all individuals: 1562
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
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GenotypeQuality
all individuals: 1300
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GenotypeQuality
all individuals: 63
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GenotypeQuality
all individuals: 55
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GenotypeQuality
all individuals: 433
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.461599054745963e-5
allele num: 40624
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 1.680107526881721e-4
allele num: 5952
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5340
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2490
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11684
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.457e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

QD
type: SiteQuality
SIO_000300: 1.178e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.900000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQ
type: SiteQuality
SIO_000300: 5.907e1

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-2

DP
type: SiteQuality
SIO_000300: 8.63048e5

GenotypeQuality
all individuals: 177
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 195
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 399
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variant carriers: 0

GenotypeQuality
all individuals: 53
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GenotypeQuality
all individuals: 815
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5380
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.895960832313341e-5
allele num: 40850
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2516
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11716
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6000
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.356e0

QD
type: SiteQuality
SIO_000300: 1.54e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

FS
type: SiteQuality
SIO_000300: 1.0805e1

DP
type: SiteQuality
SIO_000300: 8.59608e5

MQ
type: SiteQuality
SIO_000300: 5.949e1

GenotypeQuality
all individuals: 3220
bin: 7.5e0
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1801
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2278
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.76522506619594e-4
allele num: 11330
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6326
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5092
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.81e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.24e-1

DP
type: SiteQuality
SIO_000300: 8.242e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.699999999999999e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 6.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.91e-1

GenotypeQuality
all individuals: 1349
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10581
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11194
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6230
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.298574683410163e-5
allele num: 37746
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2214
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 452
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4978
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5388
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.92e-1

DP
type: SiteQuality
SIO_000300: 8.17072e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.05e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

FS
type: SiteQuality
SIO_000300: 2.116e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.05e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 5.82e0

VQSLOD
type: SiteQuality
SIO_000300: -8.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6226
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 452
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5344
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2176
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37448
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.97827258035554e-5
allele num: 11138
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4964
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.086e0

DP
type: SiteQuality
SIO_000300: 8.08054e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.385e1

FS
type: SiteQuality
SIO_000300: 2.683e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.574e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.08e-1

GenotypeQuality
all individuals: 935
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1996
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 350
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variant carriers: 0

GenotypeQuality
all individuals: 29446
bin: 2.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 428
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10942
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4812
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6098
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.738825591586328e-5
allele num: 36512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2086
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQ
type: SiteQuality
SIO_000300: 5.833e1

DP
type: SiteQuality
SIO_000300: 7.96923e5

VQSLOD
type: SiteQuality
SIO_000300: -1.284e0

FS
type: SiteQuality
SIO_000300: 1.607e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.04e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

QD
type: SiteQuality
SIO_000300: 1.307e1

GenotypeQuality
all individuals: 1580
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3656
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 941
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10886
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 9.75e1
variant carriers: 3

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10924
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.753455586761385e-5
allele num: 36318
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2070
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6082
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4792
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 5.784805244890089e-4
allele num: 5186
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 430
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.07e-2

QD
type: SiteQuality
SIO_000300: 1.443e1

DP
type: SiteQuality
SIO_000300: 7.96601e5

FS
type: SiteQuality
SIO_000300: 6.429e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.94e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.97e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 341
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variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 422
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5078
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10824
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2052
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6038
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.776389582986285e-5
allele num: 36018
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4760
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.080000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.88131e5

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.92e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.92e-1

FS
type: SiteQuality
SIO_000300: 2.041e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.05e-2

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6038
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.238728750923873e-5
allele num: 10824
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 422
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2052
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5078
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4760
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36018
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.080000000000001e-1

DP
type: SiteQuality
SIO_000300: 7.88131e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.94e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.041e0

MQRankSum
type: SiteQuality
SIO_000300: 4.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.05e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1835
bin: 1.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2002
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10726
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35638
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5016
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 418
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
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allele num: 5994
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QD
type: SiteQuality
SIO_000300: 1.492e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.22e-1

FS
type: SiteQuality
SIO_000300: 1.922e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.05e-2

DP
type: SiteQuality
SIO_000300: 7.80966e5

MQRankSum
type: SiteQuality
SIO_000300: 1.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.68e-1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 136
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GenotypeQuality
all individuals: 288
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10606
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.851765242685222e-5
allele num: 35066
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4648
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4870
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5914
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1964
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.134e0

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

DP
type: SiteQuality
SIO_000300: 7.71353e5

FS
type: SiteQuality
SIO_000300: 3.856e0

MQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

QD
type: SiteQuality
SIO_000300: 1.219e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.06e-2

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5914
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.851765242685222e-5
allele num: 35066
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4648
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1964
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10606
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.71353e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.06e-2

FS
type: SiteQuality
SIO_000300: 3.856e0

MQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.134e0

QD
type: SiteQuality
SIO_000300: 1.219e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 4626
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4494
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 33866
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.721170395869191e-4
allele num: 5810
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1838
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 390
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.21e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.590000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.516e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e0

QD
type: SiteQuality
SIO_000300: 8.529999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.681e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.65e-1

DP
type: SiteQuality
SIO_000300: 7.52385e5

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1606
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 368
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4182
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5520
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31250
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.59e-1

DP
type: SiteQuality
SIO_000300: 7.11685e5

FS
type: SiteQuality
SIO_000300: 4.761e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.46e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.21e-1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26670
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3720
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1256
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7982
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.011263073209976e-4
allele num: 4972
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3340
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.1096e1

DP
type: SiteQuality
SIO_000300: 6.31624e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.734e0

MQ
type: SiteQuality
SIO_000300: 5.739e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.91e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.35e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.28e-1

QD
type: SiteQuality
SIO_000300: 5.36e0

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3576
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1170
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 3158
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4866
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 296
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.945084424806691e-5
allele num: 25348
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-2

DP
type: SiteQuality
SIO_000300: 6.049e5

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -6.047e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.04e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.92e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.800000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.505e0

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2858
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 274
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1032
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7006
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3320
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.242681374628766e-5
allele num: 23570
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.93e-1

QD
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.37e-2

DP
type: SiteQuality
SIO_000300: 5.75292e5

ClippingRankSum
type: SiteQuality
SIO_000300: -7.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.41e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2744
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.301970315076816e-4
allele num: 23042
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6816
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 254
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 228
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2398
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 4396
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 1.613944480309877e-4
allele num: 6196
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.38e-1

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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DP
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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Other
type: Population
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allele frequency: 0.0e0
allele num: 226
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 2116
num of homozygotes: 0

European (Non-Finnish)
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allele count: 29
allele frequency: 1.49561629706034e-3
allele num: 19390
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.407e0

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
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DP
type: SiteQuality
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InbreedingCoeff
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MQ
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 512
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GenotypeQuality
all individuals: 1981
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1770
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

African
type: Population
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allele frequency: 0.0e0
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South Asian
type: Population
allele count: 2
allele frequency: 3.834355828220859e-4
allele num: 5216
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 696
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.06e-2

QD
type: SiteQuality
SIO_000300: 1.271e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.203e0

VQSLOD
type: SiteQuality
SIO_000300: 4.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

FS
type: SiteQuality
SIO_000300: 3.509e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 4.7669e5

GenotypeQuality
all individuals: 3199
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1481
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1981
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1770
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 696
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2558
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.477700693756194e-4
allele num: 4036
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.06e-2

DP
type: SiteQuality
SIO_000300: 4.7669e5

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 1.271e1

FS
type: SiteQuality
SIO_000300: 3.509e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.203e0

GenotypeQuality
all individuals: 506
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 81
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2586
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5230
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.475247524752475e-4
allele num: 4040
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1786
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 714
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17502
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.64e-2

MQ
type: SiteQuality
SIO_000300: 5.689e1

DP
type: SiteQuality
SIO_000300: 4.7582e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.169e0

FS
type: SiteQuality
SIO_000300: 3.692e0

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.756e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e0

QD
type: SiteQuality
SIO_000300: 1.768e1

GenotypeQuality
all individuals: 960
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2593
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 1605
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 53
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variant carriers: 0

GenotypeQuality
all individuals: 21457
bin: 7.5e0
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2318
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.606882168925965e-4
allele num: 3836
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4684
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15628
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.919e1

MQRankSum
type: SiteQuality
SIO_000300: -8.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.69e-1

QD
type: SiteQuality
SIO_000300: 1.289e1

VQSLOD
type: SiteQuality
SIO_000300: -1.021e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.99e-2

DP
type: SiteQuality
SIO_000300: 4.5243e5

BaseQRankSum
type: SiteQuality
SIO_000300: -5.85e-1

GenotypeQuality
all individuals: 1396
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2765
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variant carriers: 0

GenotypeQuality
all individuals: 80
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1853
bin: 2.75e1
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GenotypeQuality
all individuals: 29
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4620
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.528267397832615e-5
allele num: 15318
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2262
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3798
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.46754e5

VQSLOD
type: SiteQuality
SIO_000300: -6.754e-1

QD
type: SiteQuality
SIO_000300: 1.02e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.087e0

MQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.01e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.72e-1

FS
type: SiteQuality
SIO_000300: 2.058e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 91
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3409
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variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
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variant carriers: 0

GenotypeQuality
all individuals: 158
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GenotypeQuality
all individuals: 538
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variant carriers: 0

GenotypeQuality
all individuals: 1309
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2002
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1184
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.501875468867217e-5
allele num: 13330
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3986
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.29e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

QD
type: SiteQuality
SIO_000300: 5.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.96e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.83e0

DP
type: SiteQuality
SIO_000300: 4.2351e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

GenotypeQuality
all individuals: 1269
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 30
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variant carriers: 0

GenotypeQuality
all individuals: 77
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variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3480
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1048
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 140
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3676
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 430
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1822
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 8.060615831049492e-5
allele num: 12406
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.564e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.54e-1

QD
type: SiteQuality
SIO_000300: 2.171e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.939e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.41e-2

DP
type: SiteQuality
SIO_000300: 4.11862e5

GenotypeQuality
all individuals: 608
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 959
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 89
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 52
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variant carriers: 0

GenotypeQuality
all individuals: 1531
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variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 8.25e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3048
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1566
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 2.828409805153991e-3
allele num: 3182
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10560
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.497e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

FS
type: SiteQuality
SIO_000300: 3.893e0

VQSLOD
type: SiteQuality
SIO_000300: 5.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.97e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

DP
type: SiteQuality
SIO_000300: 3.9389e5

GenotypeQuality
all individuals: 190
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 334
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 9.540164090822362e-5
allele num: 10482
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3168
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 3.291639236339697e-4
allele num: 3038
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

QD
type: SiteQuality
SIO_000300: 1.682e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.48e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.92661e5

VQSLOD
type: SiteQuality
SIO_000300: 2.99e0

MQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

GenotypeQuality
all individuals: 7000
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 636
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variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 104
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3064
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9840
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2794
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.09e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.139e0

DP
type: SiteQuality
SIO_000300: 3.86366e5

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 3.48e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2690
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 298
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 708
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9374
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1378
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2980
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 104
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.37e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.83e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.9e0

DP
type: SiteQuality
SIO_000300: 3.83229e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 45
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GenotypeQuality
all individuals: 30
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9426
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 106
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2702
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2990
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 296
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1378
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.81e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

QD
type: SiteQuality
SIO_000300: 6.42e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.73e0

DP
type: SiteQuality
SIO_000300: 3.83222e5

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 85
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 674
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9074
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1302
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 4.8e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.34e-2

FS
type: SiteQuality
SIO_000300: 3.976e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.22e-1

DP
type: SiteQuality
SIO_000300: 3.82126e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -9.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.249e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

GenotypeQuality
all individuals: 890
bin: 6.75e1
variant carriers: 835

GenotypeQuality
all individuals: 769
bin: 8.25e1
variant carriers: 757

GenotypeQuality
all individuals: 5609
bin: 2.25e1
variant carriers: 3575

GenotypeQuality
all individuals: 9070
bin: 7.5e0
variant carriers: 2587

GenotypeQuality
all individuals: 826
bin: 9.25e1
variant carriers: 819

GenotypeQuality
all individuals: 908
bin: 8.75e1
variant carriers: 905

GenotypeQuality
all individuals: 5686
bin: 9.75e1
variant carriers: 5681

South Asian
type: Population
allele count: 1522
allele frequency: 5.787072243346008e-1
allele num: 2630
num of homozygotes: 405

Latino
type: Population
allele count: 393
allele frequency: 5.646551724137931e-1
allele num: 696
num of homozygotes: 102

Other
type: Population
allele count: 53
allele frequency: 5.0e-1
allele num: 106
num of homozygotes: 14

East Asian
type: Population
allele count: 651
allele frequency: 5.062208398133748e-1
allele num: 1286
num of homozygotes: 152

African
type: Population
allele count: 1045
allele frequency: 3.554421768707483e-1
allele num: 2940
num of homozygotes: 185

European (Non-Finnish)
type: Population
allele count: 5719
allele frequency: 5.938733125649014e-1
allele num: 9630
num of homozygotes: 1583

European (Finnish)
type: Population
allele count: 209
allele frequency: 6.075581395348837e-1
allele num: 344
num of homozygotes: 57

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.034e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.026e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.6e-2