12-301848-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 301848
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 301847
    reference: chr 12
allele count: 2
allele frequency: 1.654259718775848e-5
allele num: 120900
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1531-35delC
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1531-35delC
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1531-35delC
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.696-35delC
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1531-35delC
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1531-35delC
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7668
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8921
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10963
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5871
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6270
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2889
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4258
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: AG
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

12-301854-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 301854
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 301854
    reference: chr 12
allele count: 5
allele frequency: 4.148413646621532e-5
allele num: 120528
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1531-40G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1531-40G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1531-40G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1531-40G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1531-40G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.696-40G>A
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10227
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7788
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4309
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8756
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2805
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2211
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4198
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4553
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5909
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

12-301855-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 301855
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 301855
    reference: chr 12
allele count: 35
allele frequency: 2.901578458681522e-4
allele num: 120624
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1531-41C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1531-41C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1531-41C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.696-41C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1531-41C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1531-41C>T
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7575
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7885
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8726
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5801
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10101
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2782
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4184
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 1
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP

12-301859-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 301859
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 301859
    reference: chr 12
allele count: 1
allele frequency: 8.293524416135881e-6
allele num: 120576
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1531-45C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1531-45C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1531-45C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1531-45C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1531-45C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.696-45C>T
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7524
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5553
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4153
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9788
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4459
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD

12-302392-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 302392
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 302392
    reference: chr 12
allele count: 1
allele frequency: 8.282670995742708e-6
allele num: 120734
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1530+51C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.695+51C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1530+51C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1530+51C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1530+51C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255671
  ensembl transcript: ENST00000544067
  gene symbol: RP11-283I3.1
  hgvsc: ENST00000544067.1:n.145+46G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1530+51C>T
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14936
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9611
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-302401-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 302401
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 302402
    reference: chr 12
allele count: 1
allele frequency: 8.27841981522567e-6
allele num: 120796
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1530+41dupC
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1530+41dupC
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1530+41dupC
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255671
  ensembl transcript: ENST00000544067
  gene symbol: RP11-283I3.1
  hgvsc: ENST00000544067.1:n.145+60dupG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.695+41dupC
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1530+41dupC
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1530+41dupC
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25133
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14965
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3074
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4842
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34275
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

12-302402-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 302402
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 302402
    reference: chr 12
allele count: 3
allele frequency: 2.483114819229241e-5
allele num: 120816
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1530+41C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.695+41C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1530+41C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1530+41C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1530+41C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1530+41C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255671
  ensembl transcript: ENST00000544067
  gene symbol: RP11-283I3.1
  hgvsc: ENST00000544067.1:n.145+56G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25180
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9610
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2729
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

12-302408-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 302408
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 302408
    reference: chr 12
allele count: 2
allele frequency: 1.654588173003739e-5
allele num: 120876
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1530+35T>C
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255671
  ensembl transcript: ENST00000544067
  gene symbol: RP11-283I3.1
  hgvsc: ENST00000544067.1:n.145+62A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1530+35T>C
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1530+35T>C
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1530+35T>C
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.695+35T>C
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1530+35T>C
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14998
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3068
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2725
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

12-302409-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 302409
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 302409
    reference: chr 12
allele count: 1
allele frequency: 8.272667107875579e-6
allele num: 120880
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1530+34C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1530+34C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.695+34C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255671
  ensembl transcript: ENST00000544067
  gene symbol: RP11-283I3.1
  hgvsc: ENST00000544067.1:n.145+63G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1530+34C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1530+34C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1530+34C>T
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25420
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2717
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9665
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

12-302410-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 302410
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 302410
    reference: chr 12
allele count: 1
allele frequency: 8.272119647938589e-6
allele num: 120888
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.695+33C>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1530+33C>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1530+33C>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1530+33C>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255671
  ensembl transcript: ENST00000544067
  gene symbol: RP11-283I3.1
  hgvsc: ENST00000544067.1:n.145+64G>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1530+33C>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1530+33C>A
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1864
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35225
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3064
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

12-302421-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 302421
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 302421
    reference: chr 12
allele count: 1
allele frequency: 8.266239026567692e-6
allele num: 120974
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1530+22C>G
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1530+22C>G
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1530+22C>G
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1530+22C>G
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.695+22C>G
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255671
  ensembl transcript: ENST00000544067
  gene symbol: RP11-283I3.1
  hgvsc: ENST00000544067.1:n.145+75G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1530+22C>G
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8243
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9739
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4833
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35838
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1863
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

12-302422-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 302422
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 302422
    reference: chr 12
allele count: 1
allele frequency: 8.265829062654984e-6
allele num: 120980
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255671
  ensembl transcript: ENST00000544067
  gene symbol: RP11-283I3.1
  hgvsc: ENST00000544067.1:n.145+76G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1530+21C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1530+21C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1530+21C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1530+21C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.695+21C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1530+21C>T
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15069
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9754
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35891
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

12-302423-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 302423
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 302423
    reference: chr 12
allele count: 1
allele frequency: 8.26541913940456e-6
allele num: 120986
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255671
  ensembl transcript: ENST00000544067
  gene symbol: RP11-283I3.1
  hgvsc: ENST00000544067.1:n.145+77G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1530+20C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1530+20C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1530+20C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.695+20C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1530+20C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1530+20C>T
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15066
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8276
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4832
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3047
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1864
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2719
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

12-302427-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 302427
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 302427
    reference: chr 12
allele count: 1
allele frequency: 8.262823902696986e-6
allele num: 121024
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1530+16C>G
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1530+16C>G
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.695+16C>G
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1530+16C>G
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255671
  ensembl transcript: ENST00000544067
  gene symbol: RP11-283I3.1
  hgvsc: ENST00000544067.1:n.145+81G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1530+16C>G
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1530+16C>G
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25773
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15084
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3051
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2712
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ

12-302440-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 302440
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 302440
    reference: chr 12
allele count: 1
allele frequency: 8.256002113536541e-6
allele num: 121124
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1530+3A>G
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.695+3A>G
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1530+3A>G
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1530+3A>G
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1530+3A>G
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255671
  ensembl transcript: ENST00000544067
  gene symbol: RP11-283I3.1
  hgvsc: ENST00000544067.1:n.145+94T>C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1530+3A>G
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15089
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25887
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8421
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3054
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9792
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
hgvs: c.1530+3A>G
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/12-302442-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 302442
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 302442
    reference: chr 12
allele count: 1
allele frequency: 8.25559316436886e-6
allele num: 121130
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1530+1G>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1530+1G>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1530+1G>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.695+1G>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1530+1G>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1530+1G>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255671
  ensembl transcript: ENST00000544067
  gene symbol: RP11-283I3.1
  hgvsc: ENST00000544067.1:n.145+96C>A
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25902
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36335
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2713
  bin: 7.25e1
  variant carriers: 0
hgvs: c.1530+1G>T
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

12-302461-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 302461
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 302461
    reference: chr 12
allele count: 1
allele frequency: 8.252050634582693e-6
allele num: 121182
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1512G>A
  hgvsp: ENST00000428720.1:c.1512G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.677G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1512G>A
  hgvsp: ENST00000397296.2:c.1512G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1512G>A
  hgvsp: ENST00000424061.2:c.1512G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1512G>A
  hgvsp: ENST00000536824.1:c.1512G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1512G>A
  hgvsp: ENST00000359674.4:c.1512G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255671
  ensembl transcript: ENST00000544067
  gene symbol: RP11-283I3.1
  hgvsc: ENST00000544067.1:n.145+115C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4349
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3050
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4832
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu504Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ

12-302464-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 302464
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 302464
    reference: chr 12
allele count: 14
allele frequency: 1.155153635433513e-4
allele num: 121196
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1509C>T
  hgvsp: ENST00000424061.2:c.1509C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1509C>T
  hgvsp: ENST00000359674.4:c.1509C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255671
  ensembl transcript: ENST00000544067
  gene symbol: RP11-283I3.1
  hgvsc: ENST00000544067.1:n.145+118G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1509C>T
  hgvsp: ENST00000428720.1:c.1509C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1509C>T
  hgvsp: ENST00000536824.1:c.1509C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.674C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1509C>T
  hgvsp: ENST00000397296.2:c.1509C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 25974
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15088
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3050
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2721
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Phe503Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

12-302477-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 302477
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 302477
    reference: chr 12
allele count: 1
allele frequency: 8.250144377526608e-6
allele num: 121210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.661T>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255671
  ensembl transcript: ENST00000544067
  gene symbol: RP11-283I3.1
  hgvsc: ENST00000544067.1:n.145+131A>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1496T>A
  hgvsp: ENSP00000380464.2:p.Ile499Asn
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1496T>A
  hgvsp: ENSP00000388184.1:p.Ile499Asn
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1496T>A
  hgvsp: ENSP00000352702.4:p.Ile499Asn
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1496T>A
  hgvsp: ENSP00000444268.1:p.Ile499Asn
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1496T>A
  hgvsp: ENSP00000399136.2:p.Ile499Asn
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15093
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9774
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36484
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1863
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2720
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile499Asn
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
reference allele: A
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum

12-302484-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 302484
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 302484
    reference: chr 12
allele count: 2
allele frequency: 1.650192247396822e-5
allele num: 121198
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1489G>A
  hgvsp: ENSP00000352702.4:p.Val497Met
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1489G>A
  hgvsp: ENSP00000399136.2:p.Val497Met
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255671
  ensembl transcript: ENST00000544067
  gene symbol: RP11-283I3.1
  hgvsc: ENST00000544067.1:n.145+138C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.654G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1489G>A
  hgvsp: ENSP00000380464.2:p.Val497Met
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1489G>A
  hgvsp: ENSP00000444268.1:p.Val497Met
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1489G>A
  hgvsp: ENSP00000388184.1:p.Val497Met
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15089
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8445
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4353
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25957
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36438
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3051
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val497Met
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP

12-302490-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 302490
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 302490
    reference: chr 12
allele count: 2
allele frequency: 1.650410126916539e-5
allele num: 121182
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255671
  ensembl transcript: ENST00000544067
  gene symbol: RP11-283I3.1
  hgvsc: ENST00000544067.1:n.145+144G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1483C>T
  hgvsp: ENSP00000444268.1:p.Pro495Ser
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.648C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1483C>T
  hgvsp: ENSP00000380464.2:p.Pro495Ser
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1483C>T
  hgvsp: ENSP00000352702.4:p.Pro495Ser
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1483C>T
  hgvsp: ENSP00000399136.2:p.Pro495Ser
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1483C>T
  hgvsp: ENSP00000388184.1:p.Pro495Ser
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15074
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25961
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3046
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2717
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro495Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

12-302490-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 302490
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 302490
    reference: chr 12
allele count: 1
allele frequency: 8.252050634582693e-6
allele num: 121182
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.648C>G
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1483C>G
  hgvsp: ENSP00000352702.4:p.Pro495Ala
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1483C>G
  hgvsp: ENSP00000380464.2:p.Pro495Ala
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1483C>G
  hgvsp: ENSP00000444268.1:p.Pro495Ala
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1483C>G
  hgvsp: ENSP00000388184.1:p.Pro495Ala
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1483C>G
  hgvsp: ENSP00000399136.2:p.Pro495Ala
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255671
  ensembl transcript: ENST00000544067
  gene symbol: RP11-283I3.1
  hgvsc: ENST00000544067.1:n.145+144G>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15074
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25961
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9756
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2717
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36371
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3046
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro495Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/12-302491-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 302491
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 302491
    reference: chr 12
allele count: 1
allele frequency: 8.251642076773278e-6
allele num: 121188
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1482G>T
  hgvsp: ENSP00000399136.2:p.Trp494Cys
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1482G>T
  hgvsp: ENSP00000352702.4:p.Trp494Cys
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255671
  ensembl transcript: ENST00000544067
  gene symbol: RP11-283I3.1
  hgvsc: ENST00000544067.1:n.145+145C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1482G>T
  hgvsp: ENSP00000444268.1:p.Trp494Cys
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1482G>T
  hgvsp: ENSP00000380464.2:p.Trp494Cys
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1482G>T
  hgvsp: ENSP00000388184.1:p.Trp494Cys
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.647G>T
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15069
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3048
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4821
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Trp494Cys
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-302492-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 302492
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 302492
    reference: chr 12
allele count: 4
allele frequency: 3.300656830709311e-5
allele num: 121188
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1481G>T
  hgvsp: ENSP00000388184.1:p.Trp494Leu
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1481G>T
  hgvsp: ENSP00000399136.2:p.Trp494Leu
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255671
  ensembl transcript: ENST00000544067
  gene symbol: RP11-283I3.1
  hgvsc: ENST00000544067.1:n.145+146C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1481G>T
  hgvsp: ENSP00000444268.1:p.Trp494Leu
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1481G>T
  hgvsp: ENSP00000352702.4:p.Trp494Leu
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1481G>T
  hgvsp: ENSP00000380464.2:p.Trp494Leu
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.646G>T
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9738
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2710
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1855
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Trp494Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-302492-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 302492
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 302492
    reference: chr 12
allele count: 232
allele frequency: 1.914380961811401e-3
allele num: 121188
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1481G>C
  hgvsp: ENSP00000444268.1:p.Trp494Ser
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255671
  ensembl transcript: ENST00000544067
  gene symbol: RP11-283I3.1
  hgvsc: ENST00000544067.1:n.145+146C>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1481G>C
  hgvsp: ENSP00000388184.1:p.Trp494Ser
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1481G>C
  hgvsp: ENSP00000380464.2:p.Trp494Ser
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1481G>C
  hgvsp: ENSP00000352702.4:p.Trp494Ser
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1481G>C
  hgvsp: ENSP00000399136.2:p.Trp494Ser
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.646G>C
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15065
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 9.75e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 8437
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 6.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 8.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 25946
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Trp494Ser
num of homozygotes: 2
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

12-302496-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 302496
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 302496
    reference: chr 12
allele count: 1
allele frequency: 8.252050634582693e-6
allele num: 121182
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1477C>A
  hgvsp: ENSP00000399136.2:p.Pro493Thr
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1477C>A
  hgvsp: ENSP00000444268.1:p.Pro493Thr
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255671
  ensembl transcript: ENST00000544067
  gene symbol: RP11-283I3.1
  hgvsc: ENST00000544067.1:n.145+150G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.642C>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1477C>A
  hgvsp: ENSP00000380464.2:p.Pro493Thr
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1477C>A
  hgvsp: ENSP00000388184.1:p.Pro493Thr
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1477C>A
  hgvsp: ENSP00000352702.4:p.Pro493Thr
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26087
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9745
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4665
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36382
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro493Thr
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

12-302497-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 302497
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 302497
    reference: chr 12
allele count: 4
allele frequency: 3.301092661671013e-5
allele num: 121172
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1476G>A
  hgvsp: ENST00000397296.2:c.1476G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.641G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1476G>A
  hgvsp: ENST00000428720.1:c.1476G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1476G>A
  hgvsp: ENST00000359674.4:c.1476G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255671
  ensembl transcript: ENST00000544067
  gene symbol: RP11-283I3.1
  hgvsc: ENST00000544067.1:n.145+151C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1476G>A
  hgvsp: ENST00000536824.1:c.1476G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1476G>A
  hgvsp: ENST00000424061.2:c.1476G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3053
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.25e1
  variant carriers: 1
hgvs: p.Arg492Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-302498-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 302498
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 302498
    reference: chr 12
allele count: 2
allele frequency: 1.651473114017704e-5
allele num: 121104
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1475G>T
  hgvsp: ENSP00000444268.1:p.Arg492Leu
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1475G>T
  hgvsp: ENSP00000399136.2:p.Arg492Leu
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1475G>T
  hgvsp: ENSP00000352702.4:p.Arg492Leu
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1475G>T
  hgvsp: ENSP00000380464.2:p.Arg492Leu
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.640G>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1475G>T
  hgvsp: ENSP00000388184.1:p.Arg492Leu
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255671
  ensembl transcript: ENST00000544067
  gene symbol: RP11-283I3.1
  hgvsc: ENST00000544067.1:n.145+152C>A
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36323
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1853
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4661
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 8.75e1
  variant carriers: 1
hgvs: p.Arg492Leu
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

12-302498-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 302498
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 302498
    reference: chr 12
allele count: 2
allele frequency: 1.651473114017704e-5
allele num: 121104
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1475G>C
  hgvsp: ENSP00000352702.4:p.Arg492Pro
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255671
  ensembl transcript: ENST00000544067
  gene symbol: RP11-283I3.1
  hgvsc: ENST00000544067.1:n.145+152C>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1475G>C
  hgvsp: ENSP00000388184.1:p.Arg492Pro
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1475G>C
  hgvsp: ENSP00000444268.1:p.Arg492Pro
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1475G>C
  hgvsp: ENSP00000399136.2:p.Arg492Pro
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1475G>C
  hgvsp: ENSP00000380464.2:p.Arg492Pro
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.640G>C
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 4320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1853
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9711
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3048
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36323
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg492Pro
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ

12-302498-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 302498
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 302498
    reference: chr 12
allele count: 3
allele frequency: 2.477209671026556e-5
allele num: 121104
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1475G>A
  hgvsp: ENSP00000444268.1:p.Arg492Gln
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1475G>A
  hgvsp: ENSP00000380464.2:p.Arg492Gln
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255671
  ensembl transcript: ENST00000544067
  gene symbol: RP11-283I3.1
  hgvsc: ENST00000544067.1:n.145+152C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1475G>A
  hgvsp: ENSP00000388184.1:p.Arg492Gln
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1475G>A
  hgvsp: ENSP00000352702.4:p.Arg492Gln
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.640G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1475G>A
  hgvsp: ENSP00000399136.2:p.Arg492Gln
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36323
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1853
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg492Gln
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

12-302499-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 302499
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 302499
    reference: chr 12
allele count: 16
allele frequency: 1.320611443098154e-4
allele num: 121156
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1474C>T
  hgvsp: ENSP00000388184.1:p.Arg492Trp
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1474C>T
  hgvsp: ENSP00000352702.4:p.Arg492Trp
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1474C>T
  hgvsp: ENSP00000399136.2:p.Arg492Trp
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.639C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1474C>T
  hgvsp: ENSP00000380464.2:p.Arg492Trp
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1474C>T
  hgvsp: ENSP00000444268.1:p.Arg492Trp
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255671
  ensembl transcript: ENST00000544067
  gene symbol: RP11-283I3.1
  hgvsc: ENST00000544067.1:n.145+153G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4353
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8443
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26071
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15099
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 36415
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg492Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

12-302500-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 302500
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 302500
    reference: chr 12
allele count: 1281
allele frequency: 1.1048437176568e-2
allele num: 115944
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255671
  ensembl transcript: ENST00000544067
  gene symbol: RP11-283I3.1
  hgvsc: ENST00000544067.1:n.145+154G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.638C>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1473C>A
  hgvsp: ENSP00000444268.1:p.Tyr491Ter
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1473C>A
  hgvsp: ENSP00000352702.4:p.Tyr491Ter
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1473C>A
  hgvsp: ENSP00000399136.2:p.Tyr491Ter
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1473C>A
  hgvsp: ENSP00000388184.1:p.Tyr491Ter
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1473C>A
  hgvsp: ENSP00000380464.2:p.Tyr491Ter
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 3.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 6.25e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 4.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 14920
  bin: 3.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 8365
  bin: 2.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 4.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.75e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.25e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 25869
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 9.75e1
  variant carriers: 478
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 84
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.25e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.25e1
  variant carriers: 51
genotype quality: GenotypeQuality
  all individuals: 9473
  bin: 6.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 8.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 36022
  bin: 6.25e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 9.25e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.25e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.25e1
  variant carriers: 21
hgvs: p.Tyr491Ter
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

12-302523-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 302523
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 302523
    reference: chr 12
allele count: 7
allele frequency: 5.785889043179263e-5
allele num: 120984
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1450A>G
  hgvsp: ENSP00000399136.2:p.Asn484Asp
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1450A>G
  hgvsp: ENSP00000352702.4:p.Asn484Asp
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1450A>G
  hgvsp: ENSP00000380464.2:p.Asn484Asp
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1450A>G
  hgvsp: ENSP00000444268.1:p.Asn484Asp
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255671
  ensembl transcript: ENST00000544067
  gene symbol: RP11-283I3.1
  hgvsc: ENST00000544067.1:n.145+177T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.615A>G
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1450A>G
  hgvsp: ENSP00000388184.1:p.Asn484Asp
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26765
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3080
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asn484Asp
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

12-302528-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 302528
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 302528
    reference: chr 12
allele count: 3
allele frequency: 2.481964392084188e-5
allele num: 120872
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1445A>G
  hgvsp: ENSP00000352702.4:p.Tyr482Cys
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255671
  ensembl transcript: ENST00000544067
  gene symbol: RP11-283I3.1
  hgvsc: ENST00000544067.1:n.145+182T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1445A>G
  hgvsp: ENSP00000444268.1:p.Tyr482Cys
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1445A>G
  hgvsp: ENSP00000380464.2:p.Tyr482Cys
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.610A>G
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1445A>G
  hgvsp: ENSP00000388184.1:p.Tyr482Cys
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1445A>G
  hgvsp: ENSP00000399136.2:p.Tyr482Cys
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4388
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8226
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2717
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3615
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 9900
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Tyr482Cys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

12-302531-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 302531
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 302531
    reference: chr 12
allele count: 1
allele frequency: 8.279516476237788e-6
allele num: 120780
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.607T>C
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1442T>C
  hgvsp: ENSP00000388184.1:p.Phe481Ser
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255671
  ensembl transcript: ENST00000544067
  gene symbol: RP11-283I3.1
  hgvsc: ENST00000544067.1:n.145+185A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1442T>C
  hgvsp: ENSP00000352702.4:p.Phe481Ser
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1442T>C
  hgvsp: ENSP00000399136.2:p.Phe481Ser
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1442T>C
  hgvsp: ENSP00000380464.2:p.Phe481Ser
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1442T>C
  hgvsp: ENSP00000444268.1:p.Phe481Ser
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26627
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2712
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3075
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1875
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Phe481Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

12-302535-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 302535
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 302535
    reference: chr 12
allele count: 3
allele frequency: 2.48554242820925e-5
allele num: 120698
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1438C>T
  hgvsp: ENSP00000444268.1:p.Arg480Cys
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255671
  ensembl transcript: ENST00000544067
  gene symbol: RP11-283I3.1
  hgvsc: ENST00000544067.1:n.145+189G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1438C>T
  hgvsp: ENSP00000388184.1:p.Arg480Cys
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.603C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1438C>T
  hgvsp: ENSP00000352702.4:p.Arg480Cys
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1438C>T
  hgvsp: ENSP00000399136.2:p.Arg480Cys
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1438C>T
  hgvsp: ENSP00000380464.2:p.Arg480Cys
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26595
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4370
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15401
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3611
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2705
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg480Cys
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: G
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum

12-302538-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 302538
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 302538
    reference: chr 12
allele count: 2
allele frequency: 1.658319790388379e-5
allele num: 120604
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1435G>A
  hgvsp: ENSP00000352702.4:p.Asp479Asn
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1435G>A
  hgvsp: ENSP00000388184.1:p.Asp479Asn
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1435G>A
  hgvsp: ENSP00000444268.1:p.Asp479Asn
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1435G>A
  hgvsp: ENSP00000380464.2:p.Asp479Asn
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255671
  ensembl transcript: ENST00000544067
  gene symbol: RP11-283I3.1
  hgvsc: ENST00000544067.1:n.145+192C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1435G>A
  hgvsp: ENSP00000399136.2:p.Asp479Asn
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.600G>A
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8056
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15356
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26519
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2695
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3066
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp479Asn
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

12-302540-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 302540
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 302540
    reference: chr 12
allele count: 51
allele frequency: 4.231171287769426e-4
allele num: 120534
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1433C>T
  hgvsp: ENSP00000444268.1:p.Ala478Val
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1433C>T
  hgvsp: ENSP00000352702.4:p.Ala478Val
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1433C>T
  hgvsp: ENSP00000380464.2:p.Ala478Val
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1433C>T
  hgvsp: ENSP00000388184.1:p.Ala478Val
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1433C>T
  hgvsp: ENSP00000399136.2:p.Ala478Val
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.598C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255671
  ensembl transcript: ENST00000544067
  gene symbol: RP11-283I3.1
  hgvsc: ENST00000544067.1:n.145+194G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 8034
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15319
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 26483
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4354
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3617
  bin: 9.75e1
  variant carriers: 51
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36557
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3041
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala478Val
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-302544-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 302544
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 302544
    reference: chr 12
allele count: 1
allele frequency: 8.303165166561494e-6
allele num: 120436
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1430-1G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.595-1G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1430-1G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1430-1G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1430-1G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1430-1G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255671
  ensembl transcript: ENST00000544067
  gene symbol: RP11-283I3.1
  hgvsc: ENST00000544067.1:n.145+198C>T
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15256
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26435
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9731
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3555
  bin: 9.75e1
  variant carriers: 1
hgvs: c.1430-1G>A
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

12-302549-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 302549
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 302549
    reference: chr 12
allele count: 1
allele frequency: 8.321682977165302e-6
allele num: 120168
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.595-6G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1430-6G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1430-6G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1430-6G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1430-6G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255671
  ensembl transcript: ENST00000544067
  gene symbol: RP11-283I3.1
  hgvsc: ENST00000544067.1:n.145+203C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1430-6G>A
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7725
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1821
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9510
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2575
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
hgvs: c.1430-6G>A
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

12-302555-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 302555
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 302555
    reference: chr 12
allele count: 1
allele frequency: 8.339031671642289e-6
allele num: 119918
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1430-12A>G
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.595-12A>G
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1430-12A>G
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1430-12A>G
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255671
  ensembl transcript: ENST00000544067
  gene symbol: RP11-283I3.1
  hgvsc: ENST00000544067.1:n.145+209T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1430-12A>G
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1430-12A>G
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7657
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25659
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1804
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35039
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2934
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

12-302558-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 302558
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 302558
    reference: chr 12
allele count: 7
allele frequency: 5.852744937375629e-5
allele num: 119602
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1430-15G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1430-15G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1430-15G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1430-15G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1430-15G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.595-15G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255671
  ensembl transcript: ENST00000544067
  gene symbol: RP11-283I3.1
  hgvsc: ENST00000544067.1:n.145+212C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2644
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4090
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7598
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14247
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25251
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34254
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2842
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9002
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

12-302559-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 302559
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 302559
    reference: chr 12
allele count: 1
allele frequency: 8.369041242635244e-6
allele num: 119488
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1430-16C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255671
  ensembl transcript: ENST00000544067
  gene symbol: RP11-283I3.1
  hgvsc: ENST00000544067.1:n.145+213G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.595-16C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1430-16C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1430-16C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1430-16C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1430-16C>T
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3407
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7536
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13731
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1745
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8573
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33008
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

12-302565-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 302565
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 302565
    reference: chr 12
allele count: 1
allele frequency: 8.388276544701125e-6
allele num: 119214
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1430-22C>G
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1430-22C>G
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1430-22C>G
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1430-22C>G
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.595-22C>G
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255671
  ensembl transcript: ENST00000544067
  gene symbol: RP11-283I3.1
  hgvsc: ENST00000544067.1:n.145+219G>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1430-22C>G
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3808
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23674
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4566
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12839
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3703
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3489
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2190
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7780
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32252
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff

12-302570-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 302570
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 302570
    reference: chr 12
allele count: 60
allele frequency: 5.041677870395268e-4
allele num: 119008
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1430-27A>G
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1430-27A>G
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.595-27A>G
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1430-27A>G
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255671
  ensembl transcript: ENST00000544067
  gene symbol: RP11-283I3.1
  hgvsc: ENST00000544067.1:n.145+224T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1430-27A>G
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1430-27A>G
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7417
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22360
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5713
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12041
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1651
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2215
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

12-302582-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 302582
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 302582
    reference: chr 12
allele count: 1
allele frequency: 8.499354049092269e-6
allele num: 117656
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1430-39C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.595-39C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1430-39C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1430-39C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255671
  ensembl transcript: ENST00000544067
  gene symbol: RP11-283I3.1
  hgvsc: ENST00000544067.1:n.145+236G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1430-39C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1430-39C>T
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15133
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6741
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7620
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12481
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4709
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5399
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3446
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19973
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6179
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5347
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3047
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

12-302585-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 302585
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 302585
    reference: chr 12
allele count: 2
allele frequency: 1.705262439889499e-5
allele num: 117284
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.595-42C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1430-42C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1430-42C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1430-42C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1430-42C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255671
  ensembl transcript: ENST00000544067
  gene symbol: RP11-283I3.1
  hgvsc: ENST00000544067.1:n.145+239G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1430-42C>T
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7632
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8421
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7476
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13612
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13860
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5691
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6219
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1499
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2154
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3189
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5300
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

12-304344-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 304344
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 304344
    reference: chr 12
allele count: 1
allele frequency: 8.347384764353328e-6
allele num: 119798
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1429+47G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.594+47G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1429+47G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1429+47G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1429+47G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1429+47G>A
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2802
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16775
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13721
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4624
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7978
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13128
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3381
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18931
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ

12-304345-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 304345
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 304345
    reference: chr 12
allele count: 9
allele frequency: 7.51641083031285e-5
allele num: 119738
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1429+46C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1429+46C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1429+46C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1429+46C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1429+46C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.594+46C>T
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4623
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7615
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7972
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19125
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4834
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13112
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

12-304345-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 304345
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 304345
    reference: chr 12
allele count: 5
allele frequency: 4.17578379461825e-5
allele num: 119738
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.594+46C>G
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1429+46C>G
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1429+46C>G
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1429+46C>G
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1429+46C>G
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1429+46C>G
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4623
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3378
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3908
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7972
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1866
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13112
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4834
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

12-304350-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 304350
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 304350
    reference: chr 12
allele count: 1
allele frequency: 8.338753523123364e-6
allele num: 119922
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1429+41A>G
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.594+41A>G
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1429+41A>G
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1429+41A>G
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1429+41A>G
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1429+41A>G
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4622
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1942
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4853
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19517
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3393
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8018
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

12-304367-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 304367
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 304367
    reference: chr 12
allele count: 1
allele frequency: 8.276227364518158e-6
allele num: 120828
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1429+24G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.594+24G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1429+24G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1429+24G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1429+24G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1429+24G>A
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7665
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6031
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 1871
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4875
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3920
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2718
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21083
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS

12-304371-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 304371
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 304371
    reference: chr 12
allele count: 1
allele frequency: 8.265282507356101e-6
allele num: 120988
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1429+20G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1429+20G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1429+20G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1429+20G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1429+20G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.594+20G>A
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4628
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7650
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5843
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 1935
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3425
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 319
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

12-304372-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 304372
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 304372
    reference: chr 12
allele count: 1
allele frequency: 8.263779852904718e-6
allele num: 121010
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.594+19G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1429+19G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1429+19G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1429+19G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1429+19G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1429+19G>A
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5841
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17938
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7649
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21320
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8249
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2714
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-304374-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 304374
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 304374
    reference: chr 12
allele count: 14
allele frequency: 1.156336725254394e-4
allele num: 121072
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.594+17G>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1429+17G>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1429+17G>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1429+17G>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1429+17G>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1429+17G>T
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 5866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14128
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2714
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8286
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13103
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

12-304374-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 304374
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 304374
    reference: chr 12
allele count: 2
allele frequency: 1.651909607506277e-5
allele num: 121072
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1429+17G>C
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.594+17G>C
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1429+17G>C
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1429+17G>C
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1429+17G>C
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1429+17G>C
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14128
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7642
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3428
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2714
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3924
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1868
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/12-304378-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 304378
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 304378
    reference: chr 12
allele count: 1
allele frequency: 8.254230293025175e-6
allele num: 121150
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1429+13G>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.594+13G>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1429+13G>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1429+13G>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1429+13G>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1429+13G>T
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18143
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5941
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13093
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3929
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2717
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8312
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4865
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21836
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

12-304383-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 304383
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 304383
    reference: chr 12
allele count: 2
allele frequency: 1.649811096629436e-5
allele num: 121226
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.594+8G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1429+8G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1429+8G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1429+8G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1429+8G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1429+8G>A
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4619
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7639
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14159
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1872
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3430
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8322
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.25e1
  variant carriers: 0
hgvs: c.1429+8G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-304384-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 304384
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 304384
    reference: chr 12
allele count: 1
allele frequency: 8.248375070111188e-6
allele num: 121236
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1429+7G>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.594+7G>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1429+7G>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1429+7G>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1429+7G>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1429+7G>T
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4618
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7637
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14157
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6042
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18257
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3437
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1870
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2713
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8323
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22140
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4855
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: c.1429+7G>T
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

12-304384-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 304384
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 304384
    reference: chr 12
allele count: 1
allele frequency: 8.248375070111188e-6
allele num: 121236
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1429+7G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1429+7G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1429+7G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1429+7G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1429+7G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.594+7G>A
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7637
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14157
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6042
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4618
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2713
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1870
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8323
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: c.1429+7G>A
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD

12-304388-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 304388
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 304388
    reference: chr 12
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.594+3G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1429+3G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1429+3G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1429+3G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1429+3G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1429+3G>A
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14151
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2714
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4852
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3917
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13090
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22241
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
hgvs: c.1429+3G>A
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-304388-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 304388
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 304388
    reference: chr 12
allele count: 2
allele frequency: 1.649022129876983e-5
allele num: 121284
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1429+3G>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1429+3G>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1429+3G>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1429+3G>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.594+3G>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1429+3G>T
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14151
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4852
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3429
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22241
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: c.1429+3G>T
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-304396-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 304396
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 304396
    reference: chr 12
allele count: 3
allele frequency: 2.472595400972554e-5
allele num: 121330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1424T>G
  hgvsp: ENSP00000399136.2:p.Val475Gly
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000542825
  gene symbol: SLC6A12
  hgvsc: ENST00000542825.1:n.732T>G
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1424T>G
  hgvsp: ENSP00000380464.2:p.Val475Gly
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1424T>G
  hgvsp: ENSP00000444268.1:p.Val475Gly
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.589T>G
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1424T>G
  hgvsp: ENSP00000388184.1:p.Val475Gly
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1424T>G
  hgvsp: ENSP00000352702.4:p.Val475Gly
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14162
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4615
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18389
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7634
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8342
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val475Gly
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-304398-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 304398
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 304398
    reference: chr 12
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1422G>T
  hgvsp: ENSP00000444268.1:p.Trp474Cys
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1422G>T
  hgvsp: ENSP00000399136.2:p.Trp474Cys
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000542825
  gene symbol: SLC6A12
  hgvsc: ENST00000542825.1:n.730G>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.587G>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1422G>T
  hgvsp: ENSP00000380464.2:p.Trp474Cys
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1422G>T
  hgvsp: ENSP00000352702.4:p.Trp474Cys
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1422G>T
  hgvsp: ENSP00000388184.1:p.Trp474Cys
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14168
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4617
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6059
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7637
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4848
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1869
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Trp474Cys
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/12-304412-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 304412
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 304412
    reference: chr 12
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1408G>T
  hgvsp: ENSP00000388184.1:p.Val470Phe
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1408G>T
  hgvsp: ENSP00000399136.2:p.Val470Phe
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1408G>T
  hgvsp: ENSP00000380464.2:p.Val470Phe
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1408G>T
  hgvsp: ENSP00000352702.4:p.Val470Phe
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000542825
  gene symbol: SLC6A12
  hgvsc: ENST00000542825.1:n.716G>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1408G>T
  hgvsp: ENSP00000444268.1:p.Val470Phe
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.573G>T
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18441
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14177
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4615
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8339
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2714
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22466
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val470Phe
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

12-304412-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 304412
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 304412
    reference: chr 12
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1408G>A
  hgvsp: ENSP00000388184.1:p.Val470Ile
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1408G>A
  hgvsp: ENSP00000352702.4:p.Val470Ile
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.573G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000542825
  gene symbol: SLC6A12
  hgvsc: ENST00000542825.1:n.716G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1408G>A
  hgvsp: ENSP00000380464.2:p.Val470Ile
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1408G>A
  hgvsp: ENSP00000399136.2:p.Val470Ile
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1408G>A
  hgvsp: ENSP00000444268.1:p.Val470Ile
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18441
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4615
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14177
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7634
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1870
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8339
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13084
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Val470Ile
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum

12-304417-TCAAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 304417
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 304413
    reference: chr 12
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000542825
  gene symbol: SLC6A12
  hgvsc: ENST00000542825.1:n.707_710delTTTG
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1399_1402delTTTG
  hgvsp: ENSP00000388184.1:p.Phe467LysfsTer5
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1399_1402delTTTG
  hgvsp: ENSP00000380464.2:p.Phe467LysfsTer5
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1399_1402delTTTG
  hgvsp: ENSP00000444268.1:p.Phe467LysfsTer5
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1399_1402delTTTG
  hgvsp: ENSP00000399136.2:p.Phe467LysfsTer5
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.564_567delTTTG
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1399_1402delTTTG
  hgvsp: ENSP00000352702.4:p.Phe467LysfsTer5
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14179
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6074
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4615
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18444
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13082
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8340
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3916
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Phe467LysfsTer5
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: TCAAA
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-304420-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 304420
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 304420
    reference: chr 12
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000542825
  gene symbol: SLC6A12
  hgvsc: ENST00000542825.1:n.708T>G
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1400T>G
  hgvsp: ENSP00000380464.2:p.Phe467Cys
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1400T>G
  hgvsp: ENSP00000444268.1:p.Phe467Cys
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1400T>G
  hgvsp: ENSP00000399136.2:p.Phe467Cys
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.565T>G
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1400T>G
  hgvsp: ENSP00000352702.4:p.Phe467Cys
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1400T>G
  hgvsp: ENSP00000388184.1:p.Phe467Cys
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18445
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6078
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14178
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4615
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13081
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4853
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3424
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22485
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3916
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Phe467Cys
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

12-304437-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 304437
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 304437
    reference: chr 12
allele count: 7
allele frequency: 5.765682656826568e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1383G>A
  hgvsp: ENST00000428720.1:c.1383G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.548G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1383G>A
  hgvsp: ENST00000536824.1:c.1383G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1383G>A
  hgvsp: ENST00000424061.2:c.1383G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000542825
  gene symbol: SLC6A12
  hgvsc: ENST00000542825.1:n.691G>A
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1383G>A
  hgvsp: ENST00000359674.4:c.1383G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1383G>A
  hgvsp: ENST00000397296.2:c.1383G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14178
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7635
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6077
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18456
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2714
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8342
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu461Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP

12-304440-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 304440
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 304440
    reference: chr 12
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1380C>T
  hgvsp: ENST00000428720.1:c.1380C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000542825
  gene symbol: SLC6A12
  hgvsc: ENST00000542825.1:n.688C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.545C>T
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1380C>T
  hgvsp: ENST00000536824.1:c.1380C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1380C>T
  hgvsp: ENST00000397296.2:c.1380C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1380C>T
  hgvsp: ENST00000359674.4:c.1380C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1380C>T
  hgvsp: ENST00000424061.2:c.1380C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14181
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7637
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6078
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13073
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1871
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3918
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3426
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2714
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Cys460Cys
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

12-304444-ATGCCAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 304444
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 304438
    reference: chr 12
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1370_1375delGTGGCA
  hgvsp: ENSP00000388184.1:p.Ser457_Gly458del
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.535_540delGTGGCA
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1370_1375delGTGGCA
  hgvsp: ENSP00000444268.1:p.Ser457_Gly458del
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1370_1375delGTGGCA
  hgvsp: ENSP00000380464.2:p.Ser457_Gly458del
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1370_1375delGTGGCA
  hgvsp: ENSP00000352702.4:p.Ser457_Gly458del
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000542825
  gene symbol: SLC6A12
  hgvsc: ENST00000542825.1:n.678_683delGTGGCA
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1370_1375delGTGGCA
  hgvsp: ENSP00000399136.2:p.Ser457_Gly458del
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 6077
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7637
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18460
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14180
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3426
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22497
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser457_Gly458del
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: ATGCCAC
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

12-304459-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 304459
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 304459
    reference: chr 12
allele count: 3
allele frequency: 2.471088267272907e-5
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000444268
  ensembl transcript: ENST00000536824
  gene symbol: SLC6A12
  hgvsc: ENST00000536824.1:c.1361A>G
  hgvsp: ENSP00000444268.1:p.Tyr454Cys
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000380464
  ensembl transcript: ENST00000397296
  gene symbol: SLC6A12
  hgvsc: ENST00000397296.2:c.1361A>G
  hgvsp: ENSP00000380464.2:p.Tyr454Cys
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000542825
  gene symbol: SLC6A12
  hgvsc: ENST00000542825.1:n.669A>G
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000399136
  ensembl transcript: ENST00000424061
  gene symbol: SLC6A12
  hgvsc: ENST00000424061.2:c.1361A>G
  hgvsp: ENSP00000399136.2:p.Tyr454Cys
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000352702
  ensembl transcript: ENST00000359674
  gene symbol: SLC6A12
  hgvsc: ENST00000359674.4:c.1361A>G
  hgvsp: ENSP00000352702.4:p.Tyr454Cys
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111181
  ensembl protein: ENSP00000388184
  ensembl transcript: ENST00000428720
  gene symbol: SLC6A12
  hgvsc: ENST00000428720.1:c.1361A>G
  hgvsp: ENSP00000388184.1:p.Tyr454Cys
  variant of: http://identifiers.org/hgnc/11045
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111181
  ensembl transcript: ENST00000545058
  gene symbol: SLC6A12
  hgvsc: ENST00000545058.1:n.526A>G
  variant of: http://identifiers.org/hgnc/11045
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18456
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14182
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6071
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3425
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2714
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4850
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Tyr454Cys
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 494
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2245
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11913
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20804
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4689
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3695
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16360
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503578516870151e-5
allele num: 66508
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.095e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.86e-1

FS
type: SiteQuality
SIO_000300: 1.3175e1

DP
type: SiteQuality
SIO_000300: 2.482129e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.599999999999999e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.81e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 81
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10375
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3663
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20749
bin: 9.75e1
variant carriers: 5

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

East Asian
type: Population
allele count: 2
allele frequency: 2.319647413593134e-4
allele num: 8622
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.601005722212589e-4
allele num: 11534
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10314
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16224
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66340
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e0

VQSLOD
type: SiteQuality
SIO_000300: 7.82e-1

FS
type: SiteQuality
SIO_000300: 1.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.35e-1

QD
type: SiteQuality
SIO_000300: 1.431e1

MQ
type: SiteQuality
SIO_000300: 5.959e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.29e-1

DP
type: SiteQuality
SIO_000300: 2.459402e6

GenotypeQuality
all individuals: 57
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2214
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5904
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4529
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20741
bin: 9.75e1
variant carriers: 34

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

Latino
type: Population
allele count: 18
allele frequency: 1.561686621551275e-3
allele num: 11526
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.109386771131535e-4
allele num: 66370
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.228199459592238e-4
allele num: 16284
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.516530178950561e-4
allele num: 6594
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.219e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.5e-2

QD
type: SiteQuality
SIO_000300: 1.427e1

MQ
type: SiteQuality
SIO_000300: 5.944e1

FS
type: SiteQuality
SIO_000300: 9.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.599999999999999e-3

DP
type: SiteQuality
SIO_000300: 2.456403e6

GenotypeQuality
all individuals: 1254
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2195
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1517
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2688
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20689
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3645
bin: 9.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507068149621726e-5
allele num: 66354
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.797e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.52e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.444138e6

QD
type: SiteQuality
SIO_000300: 2.108e1

GenotypeQuality
all individuals: 3130
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4860
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 33181
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 946
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2761
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1915
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 573
bin: 4.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50652324565368e-5
allele num: 66378
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10284
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

DP
type: SiteQuality
SIO_000300: 1.913588e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.91e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.282e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.196e0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 938
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1871
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2718
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9604
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 2.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66394
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.160900859066636e-4
allele num: 8614
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e0

FS
type: SiteQuality
SIO_000300: 5.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.316e0

QD
type: SiteQuality
SIO_000300: 1.281e1

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.947e1

DP
type: SiteQuality
SIO_000300: 1.916434e6

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3080
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1867
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 939
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34434
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4838
bin: 9.75e1
variant carriers: 3

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.484320557491289e-4
allele num: 8610
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66408
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.73e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

QD
type: SiteQuality
SIO_000300: 1.03e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -9.3e-2

DP
type: SiteQuality
SIO_000300: 1.917362e6

FS
type: SiteQuality
SIO_000300: 1.964e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.985e0

GenotypeQuality
all individuals: 181
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9652
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34991
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1864
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4835
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 319
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 720
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.010053578953705e-5
allele num: 66444
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.049e-1

QD
type: SiteQuality
SIO_000300: 1.208e1

DP
type: SiteQuality
SIO_000300: 1.920635e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.25e0

FS
type: SiteQuality
SIO_000300: 4.501e0

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.231e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 154
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4835
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 317
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35138
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
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variant carriers: 0

GenotypeQuality
all individuals: 1864
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 3062
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66450
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.513317191283293e-4
allele num: 6608
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.419e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.508e0

FS
type: SiteQuality
SIO_000300: 3.108e0

MQRankSum
type: SiteQuality
SIO_000300: 5.56e-1

DP
type: SiteQuality
SIO_000300: 1.92137e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2715
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4834
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 722
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9673
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 4.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504664459825459e-5
allele num: 66460
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.922159e6

MQRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.007e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.091e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.79e-1

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

GenotypeQuality
all individuals: 66
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 935
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2707
bin: 7.25e1
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GenotypeQuality
all individuals: 153
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3050
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503849855630414e-5
allele num: 66496
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.928015e6

FS
type: SiteQuality
SIO_000300: 8.279999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.035e0

MQ
type: SiteQuality
SIO_000300: 5.985e1

VQSLOD
type: SiteQuality
SIO_000300: -1.539e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.164e0

MQRankSum
type: SiteQuality
SIO_000300: 5.38e-1

QD
type: SiteQuality
SIO_000300: 1.625e1

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3049
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
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GenotypeQuality
all individuals: 4832
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2710
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 932
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66494
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.652015919709292e-5
allele num: 11558
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.304e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.302e0

FS
type: SiteQuality
SIO_000300: 5.976e0

DP
type: SiteQuality
SIO_000300: 1.928231e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

MQ
type: SiteQuality
SIO_000300: 5.933e1

MQRankSum
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SIO_000300: 1.66e0

ReadPosRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.503668952243474e-5
allele num: 66504
num of homozygotes: 0

African
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Latino
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ReadPosRankSum
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InbreedingCoeff
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QD
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FS
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BaseQRankSum
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MQRankSum
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DP
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MQ
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.503171692270691e-5
allele num: 66526
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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DP
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FS
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BaseQRankSum
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QD
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MQ
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SIO_000300: 5.94e1

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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East 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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allele frequency: 0.0e0
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Latino
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Other
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South Asian
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allele frequency: 6.058403004967891e-5
allele num: 16506
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66586
num of homozygotes: 0

FS
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VQSLOD
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QD
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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MQ
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InbreedingCoeff
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SIO_000300: -1.0e-4

BaseQRankSum
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SIO_000300: 3.85e0

DP
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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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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66592
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European (Finnish)
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allele frequency: 1.513317191283293e-4
allele num: 6608
num of homozygotes: 0

South Asian
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African
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allele frequency: 0.0e0
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Latino
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East Asian
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Other
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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MQ
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MQRankSum
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FS
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DP
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QD
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ClippingRankSum
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BaseQRankSum
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SIO_000300: -1.003e0

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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variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66620
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8626
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European (Finnish)
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allele frequency: 1.513775355737209e-4
allele num: 6606
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ClippingRankSum
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DP
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MQRankSum
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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QD
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FS
type: SiteQuality
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BaseQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 2.10115563559958e-4
allele num: 66630
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Latino
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East Asian
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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FS
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ReadPosRankSum
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QD
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MQ
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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DP
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.50073536032656e-5
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Latino
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East Asian
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South Asian
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European (Finnish)
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African
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FS
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MQ
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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QD
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DP
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BaseQRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Latino
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Other
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European (Finnish)
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South Asian
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African
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East Asian
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ReadPosRankSum
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MQ
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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MQRankSum
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FS
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InbreedingCoeff
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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African
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Other
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European (Non-Finnish)
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East Asian
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Latino
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InbreedingCoeff
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DP
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VQSLOD
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ReadPosRankSum
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MQ
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MQRankSum
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BaseQRankSum
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FS
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Other
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East Asian
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African
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.109e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.674e0

QD
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SIO_000300: 1.093e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.16e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.89e-1

FS
type: SiteQuality
SIO_000300: 7.578e0

DP
type: SiteQuality
SIO_000300: 1.933807e6

MQ
type: SiteQuality
SIO_000300: 5.956e1

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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bin: 6.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66622
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.515151515151515e-4
allele num: 6600
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.09e-2

DP
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.399e0

VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.952e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.1e-2

QD
type: SiteQuality
SIO_000300: 4.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.499e0

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
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.515151515151515e-4
allele num: 6600
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.503017021404341e-5
allele num: 66622
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.3e-2

FS
type: SiteQuality
SIO_000300: 4.233e0

QD
type: SiteQuality
SIO_000300: 1.187e1

MQRankSum
type: SiteQuality
SIO_000300: 2.92e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 1.95e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.74e-1

DP
type: SiteQuality
SIO_000300: 1.941264e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.05e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -8.04e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4872
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variant carriers: 230

GenotypeQuality
all individuals: 1855
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 145
allele frequency: 2.176458227012098e-3
allele num: 66622
num of homozygotes: 1

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

Latino
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allele count: 3
allele frequency: 2.594706798131811e-4
allele num: 11562
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 73
allele frequency: 1.106060606060606e-2
allele num: 6600
num of homozygotes: 1

Other
type: Population
allele count: 8
allele frequency: 8.830022075055188e-3
allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.895193977996526e-4
allele num: 10362
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.233e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.74e-1

DP
type: SiteQuality
SIO_000300: 1.941264e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.05e-2

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.92e-1

QD
type: SiteQuality
SIO_000300: 1.187e1

VQSLOD
type: SiteQuality
SIO_000300: 1.95e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.04e-1

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

GenotypeQuality
all individuals: 52
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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
all individuals: 717
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501231009427731e-5
allele num: 66612
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.927299e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.04e-1

FS
type: SiteQuality
SIO_000300: 1.1428e1

MQ
type: SiteQuality
SIO_000300: 5.954e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.194e0

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.929999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.88e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.976e0

QD
type: SiteQuality
SIO_000300: 1.41e0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 36384
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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: 717
bin: 8.75e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.03030303030303e-4
allele num: 6600
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.002912825440678e-5
allele num: 66602
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.922e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.49e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.129999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.927301e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.639e0

MQRankSum
type: SiteQuality
SIO_000300: -8.1e-2

FS
type: SiteQuality
SIO_000300: 3.962e0

QD
type: SiteQuality
SIO_000300: 3.95e0

VQSLOD
type: SiteQuality
SIO_000300: -2.477e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.82e-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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GenotypeQuality
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GenotypeQuality
all individuals: 918
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variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.003634397621121e-5
allele num: 66586
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.949e1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.92735e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.268000000000001e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.8e-2

BaseQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.003634397621121e-5
allele num: 66586
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.268000000000001e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.8e-2

MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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

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

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.505451596431682e-5
allele num: 66586
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.949e1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.46e-1

FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.92735e6

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.8e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1874
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.252319889486171e-4
allele num: 66598
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
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allele num: 906
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South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.71e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

DP
type: SiteQuality
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MQRankSum
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

GenotypeQuality
all individuals: 86
bin: 5.75e1
variant carriers: 26

GenotypeQuality
all individuals: 2333
bin: 2.5e0
variant carriers: 14

GenotypeQuality
all individuals: 95
bin: 7.5e0
variant carriers: 24

GenotypeQuality
all individuals: 2579
bin: 7.25e1
variant carriers: 15

GenotypeQuality
all individuals: 251
bin: 2.25e1
variant carriers: 33

GenotypeQuality
all individuals: 112
bin: 5.25e1
variant carriers: 30

GenotypeQuality
all individuals: 86
bin: 4.75e1
variant carriers: 24

GenotypeQuality
all individuals: 1677
bin: 8.25e1
variant carriers: 33

GenotypeQuality
all individuals: 2850
bin: 7.75e1
variant carriers: 26

GenotypeQuality
all individuals: 83
bin: 4.25e1
variant carriers: 20

GenotypeQuality
all individuals: 3141
bin: 9.75e1
variant carriers: 919

Other
type: Population
allele count: 13
allele frequency: 1.570048309178744e-2
allele num: 828
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.635922918434129e-4
allele num: 16502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 742
allele frequency: 1.170199343931365e-2
allele num: 63408
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 311
allele frequency: 5.323519342690859e-2
allele num: 5842
num of homozygotes: 0

Latino
type: Population
allele count: 28
allele frequency: 2.453127737865779e-3
allele num: 11414
num of homozygotes: 0

African
type: Population
allele count: 147
allele frequency: 1.552926262412846e-2
allele num: 9466
num of homozygotes: 0

East Asian
type: Population
allele count: 34
allele frequency: 4.007543611504008e-3
allele num: 8484
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.59e0

VQSLOD
type: SiteQuality
SIO_000300: -1.433e2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.85e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.249e0

FS
type: SiteQuality
SIO_000300: 1.71179e2

MQ
type: SiteQuality
SIO_000300: 5.939e1

MQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.46e-2

DP
type: SiteQuality
SIO_000300: 1.985002e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.804e0

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

GenotypeQuality
all individuals: 2724
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37253
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1880
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9926
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3623
bin: 9.75e1
variant carriers: 7

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66504
num of homozygotes: 0

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

Latino
type: Population
allele count: 7
allele frequency: 6.058507876060239e-4
allele num: 11554
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.73e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.0e-2

QD
type: SiteQuality
SIO_000300: 1.316e1

MQ
type: SiteQuality
SIO_000300: 5.979e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.404e0

DP
type: SiteQuality
SIO_000300: 1.853256e6

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37093
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3077
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 694
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1875
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 944
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

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

African
type: Population
allele count: 3
allele frequency: 2.904725019364833e-4
allele num: 10328
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66450
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.85032e6

QD
type: SiteQuality
SIO_000300: 1.791e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.06e-1

FS
type: SiteQuality
SIO_000300: 2.503e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e-1

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 36934
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3611
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 944
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9869
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66404
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.4e-1

FS
type: SiteQuality
SIO_000300: 4.529e0

QD
type: SiteQuality
SIO_000300: 1.477e1

DP
type: SiteQuality
SIO_000300: 1.847771e6

MQ
type: SiteQuality
SIO_000300: 5.888e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.26e0

VQSLOD
type: SiteQuality
SIO_000300: -1.603e0

MQRankSum
type: SiteQuality
SIO_000300: 1.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e-1

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 944
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1872
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 36836
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9840
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3069
bin: 7.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 2
allele frequency: 1.938360147315371e-4
allele num: 10318
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506841058405159e-5
allele num: 66364
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.845635e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.88e-1

QD
type: SiteQuality
SIO_000300: 1.197e1

VQSLOD
type: SiteQuality
SIO_000300: 5.04e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.37e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.314e0

GenotypeQuality
all individuals: 178
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 942
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3606
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1870
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9799
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36625
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.323420074349442e-4
allele num: 8608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66314
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.431e1

FS
type: SiteQuality
SIO_000300: 3.087e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.599999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.021e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.55e0

VQSLOD
type: SiteQuality
SIO_000300: 1.7e-1

DP
type: SiteQuality
SIO_000300: 1.842303e6

GenotypeQuality
all individuals: 2673
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 936
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9763
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1849
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 12
allele frequency: 1.040582726326743e-3
allele num: 11532
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.118568232662192e-3
allele num: 894
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 38
allele frequency: 5.733079870854832e-4
allele num: 66282
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6470
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

DP
type: SiteQuality
SIO_000300: 1.84069e6

QD
type: SiteQuality
SIO_000300: 1.293e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.052e0

VQSLOD
type: SiteQuality
SIO_000300: 5.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.35e-1

GenotypeQuality
all individuals: 57
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36403
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 244
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2633
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3019
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1837
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.082725060827251e-5
allele num: 16440
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66228
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.4e-1

QD
type: SiteQuality
SIO_000300: 1.44e1

VQSLOD
type: SiteQuality
SIO_000300: 3.67e-1

FS
type: SiteQuality
SIO_000300: 2.071e0

MQRankSum
type: SiteQuality
SIO_000300: 9.409999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.833687e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.662e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

GenotypeQuality
all individuals: 35794
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1395
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 927
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2976
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3542
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 664
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66094
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.692628650904033e-5
allele num: 11504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6430
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.128e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

QD
type: SiteQuality
SIO_000300: 8.640000000000001e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.04e-1

DP
type: SiteQuality
SIO_000300: 1.82082e6

GenotypeQuality
all individuals: 542
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1944
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 918
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 653
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9235
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2529
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3526
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 118
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16354
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6400
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515932450050026e-5
allele num: 65966
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.799748e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.041e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.245e0

QD
type: SiteQuality
SIO_000300: 1.469e1

FS
type: SiteQuality
SIO_000300: 3.667e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

VQSLOD
type: SiteQuality
SIO_000300: 9.81e-1

GenotypeQuality
all individuals: 636
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1763
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 827
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2463
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2325
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3513
bin: 9.75e1
variant carriers: 7

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.597167775853162e-5
allele num: 65814
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.778994719342852e-5
allele num: 10226
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6384
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.722958827634333e-5
allele num: 11464
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16286
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.42e0

QD
type: SiteQuality
SIO_000300: 1.409e1

FS
type: SiteQuality
SIO_000300: 2.014e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.78e0

MQRankSum
type: SiteQuality
SIO_000300: 1.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.26e-1

DP
type: SiteQuality
SIO_000300: 1.785199e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.27e-1

GenotypeQuality
all individuals: 2878
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3498
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1094
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2376
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16296
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10212
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65738
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6380
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.172332942555686e-4
allele num: 8530
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.557e0

MQRankSum
type: SiteQuality
SIO_000300: 1.32e-1

QD
type: SiteQuality
SIO_000300: 1.149e1

VQSLOD
type: SiteQuality
SIO_000300: 5.99e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
SIO_000300: 1.763191e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e0

GenotypeQuality
all individuals: 890
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1686
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 622
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variant carriers: 0

GenotypeQuality
all individuals: 1595
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1202
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2649
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variant carriers: 0

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

GenotypeQuality
all individuals: 323
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6360
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16258
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10194
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524436720631727e-5
allele num: 65598
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.728291e6

MQ
type: SiteQuality
SIO_000300: 5.932e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.052e0

MQRankSum
type: SiteQuality
SIO_000300: -5.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.07e-1

QD
type: SiteQuality
SIO_000300: 1.466e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeQuality
all individuals: 3521
bin: 9.75e1
variant carriers: 60

GenotypeQuality
all individuals: 4531
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
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variant carriers: 0

GenotypeQuality
all individuals: 7316
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2086
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30617
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2540
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 5.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6344
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.23334977799704e-4
allele num: 16216
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526717557251908e-5
allele num: 65500
num of homozygotes: 0

African
type: Population
allele count: 57
allele frequency: 5.600314403615641e-3
allele num: 10178
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.122e0

VQSLOD
type: SiteQuality
SIO_000300: 3.84e0

QD
type: SiteQuality
SIO_000300: 1.331e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.16e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.338e0

DP
type: SiteQuality
SIO_000300: 1.693189e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e-1

GenotypeQuality
all individuals: 261
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1515
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2222
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1714
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1740
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1656
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64772
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8352
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.241418050181001e-5
allele num: 16022
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11292
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10108
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.56e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.83e0

DP
type: SiteQuality
SIO_000300: 1.549457e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e0

FS
type: SiteQuality
SIO_000300: 4.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.874e-1

QD
type: SiteQuality
SIO_000300: 9.220000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.65e-1

GenotypeQuality
all individuals: 576
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2147
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3445
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5027
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2117
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variant carriers: 0

GenotypeQuality
all individuals: 18598
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1637
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64588
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10066
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.260956674179814e-5
allele num: 15972
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6234
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11260
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.203948952564411e-4
allele num: 8306
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.305e0

MQRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.527312e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 1.196e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1867
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2718
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 722
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3920
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4834
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507977199384745e-5
allele num: 66314
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15364
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.65e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.511e0

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

VQSLOD
type: SiteQuality
SIO_000300: -1.21e0

FS
type: SiteQuality
SIO_000300: 5.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

QD
type: SiteQuality
SIO_000300: 9.890000000000001e0

DP
type: SiteQuality
SIO_000300: 2.220616e6

MQ
type: SiteQuality
SIO_000300: 5.985e1

GenotypeQuality
all individuals: 2713
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1866
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3378
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3908
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 754
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.923816852635629e-4
allele num: 10396
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.779010633379565e-4
allele num: 8652
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.554798112218144e-5
allele num: 15256
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507068149621726e-5
allele num: 66354
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.41e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.51e-1

FS
type: SiteQuality
SIO_000300: 7.22e-1

DP
type: SiteQuality
SIO_000300: 2.22198e6

VQSLOD
type: SiteQuality
SIO_000300: 4.28e0

MQRankSum
type: SiteQuality
SIO_000300: 2.42e-1

QD
type: SiteQuality
SIO_000300: 1.292e1

GenotypeQuality
all individuals: 156
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variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19125
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2713
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507068149621726e-5
allele num: 66354
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.847633705271258e-4
allele num: 10396
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15256
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.41e0

QD
type: SiteQuality
SIO_000300: 1.292e1

MQ
type: SiteQuality
SIO_000300: 5.964e1

DP
type: SiteQuality
SIO_000300: 2.22198e6

MQRankSum
type: SiteQuality
SIO_000300: 2.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.51e-1

FS
type: SiteQuality
SIO_000300: 7.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.66e-1

GenotypeQuality
all individuals: 13107
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 101
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GenotypeQuality
all individuals: 89
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2714
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 458
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variant carriers: 0

GenotypeQuality
all individuals: 3926
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1870
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66388
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.493506493506494e-5
allele num: 15400
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.17e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

DP
type: SiteQuality
SIO_000300: 2.2244e6

VQSLOD
type: SiteQuality
SIO_000300: 8.179999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.453e1

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.378e0

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

GenotypeQuality
all individuals: 134
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3424
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8213
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501817198810561e-5
allele num: 66586
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16090
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -7.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.96e-1

DP
type: SiteQuality
SIO_000300: 2.240482e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

QD
type: SiteQuality
SIO_000300: 1.565e1

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.468e0

GenotypeQuality
all individuals: 2713
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1869
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21209
bin: 6.25e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16224
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501276084671971e-5
allele num: 66610
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.084e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.57e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.381e1

VQSLOD
type: SiteQuality
SIO_000300: 9.19e-1

FS
type: SiteQuality
SIO_000300: 3.933e0

DP
type: SiteQuality
SIO_000300: 2.242986e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.35e-1

GenotypeQuality
all individuals: 3422
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3924
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 105
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4861
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500915558490679e-5
allele num: 66626
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16228
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.928e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.56e-1

DP
type: SiteQuality
SIO_000300: 2.243805e6

QD
type: SiteQuality
SIO_000300: 1.485e1

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.96e0

VQSLOD
type: SiteQuality
SIO_000300: 8.62e-1

FS
type: SiteQuality
SIO_000300: 1.361e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.931e0

GenotypeQuality
all individuals: 76
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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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3924
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variant carriers: 0

GenotypeQuality
all individuals: 4874
bin: 7.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.228199459592238e-4
allele num: 16284
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.800936486973226e-4
allele num: 66632
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 5.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.954e1

VQSLOD
type: SiteQuality
SIO_000300: 2.67e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.869e0

QD
type: SiteQuality
SIO_000300: 1.353e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.21e-1

DP
type: SiteQuality
SIO_000300: 2.245726e6

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13103
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4874
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16284
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

FS
type: SiteQuality
SIO_000300: 5.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.869e0

QD
type: SiteQuality
SIO_000300: 1.353e1

MQRankSum
type: SiteQuality
SIO_000300: 2.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.245726e6

MQ
type: SiteQuality
SIO_000300: 5.954e1

GenotypeQuality
all individuals: 76
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3428
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
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variant carriers: 0

GenotypeQuality
all individuals: 1868
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16344
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66650
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.35e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.602e0

DP
type: SiteQuality
SIO_000300: 2.246592e6

MQ
type: SiteQuality
SIO_000300: 5.983e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.084e1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.75e1
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GenotypeQuality
all individuals: 13095
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3924
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

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

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

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

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.218769043266301e-4
allele num: 16410
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.464e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.66e-1

DP
type: SiteQuality
SIO_000300: 2.248688e6

FS
type: SiteQuality
SIO_000300: 5.79e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.86e0

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.66e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13092
bin: 9.75e1
variant carriers: 1

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 6.7e-2

DP
type: SiteQuality
SIO_000300: 2.24908e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.18e-1

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.926e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.127e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13092
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5001500150015e-5
allele num: 66660
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.926e1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.24908e6

QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 21
bin: 3.75e1
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GenotypeQuality
all individuals: 1871
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

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

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.38e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.277e1

MQRankSum
type: SiteQuality
SIO_000300: -1.24e0

DP
type: SiteQuality
SIO_000300: 2.249743e6

MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.68e0

FS
type: SiteQuality
SIO_000300: 1.915e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
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GenotypeQuality
all individuals: 1871
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66668
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African
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allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

QD
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VQSLOD
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FS
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SIO_000300: 1.915e0

MQRankSum
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SIO_000300: -1.24e0

ReadPosRankSum
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SIO_000300: 3.38e-1

InbreedingCoeff
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SIO_000300: 0.0e0

DP
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MQ
type: SiteQuality
SIO_000300: 5.99e1

BaseQRankSum
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SIO_000300: -4.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

South 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 count: 3
allele frequency: 4.498965237995261e-5
allele num: 66682
num of homozygotes: 0

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

QD
type: SiteQuality
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MQ
type: SiteQuality
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DP
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FS
type: SiteQuality
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MQRankSum
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VQSLOD
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BaseQRankSum
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SIO_000300: 1.73e0

InbreedingCoeff
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.42e-1

ReadPosRankSum
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SIO_000300: 5.01e-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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66684
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.977e1

MQRankSum
type: SiteQuality
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QD
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VQSLOD
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SIO_000300: -1.389e0

InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e0

FS
type: SiteQuality
SIO_000300: 2.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.32e-1

DP
type: SiteQuality
SIO_000300: 2.250861e6

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 4.76e-1

DP
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SIO_000300: 2.251499e6

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e0

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-2

MQ
type: SiteQuality
SIO_000300: 5.957e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-1

GenotypeQuality
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bin: 8.25e1
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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.77e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

FS
type: SiteQuality
SIO_000300: 4.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.251499e6

QD
type: SiteQuality
SIO_000300: 9.800000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.601e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.98e-1

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

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

South Asian
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Other
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BaseQRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
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FS
type: SiteQuality
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QD
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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VQSLOD
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DP
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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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GenotypeQuality
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variant carriers: 7

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 6
allele frequency: 8.990649724286742e-5
allele num: 66736
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

East Asian
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
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allele num: 66736
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African
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European (Finnish)
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Latino
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ReadPosRankSum
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DP
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VQSLOD
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FS
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MQ
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QD
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele num: 11578
num of homozygotes: 0

South Asian
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Other
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East Asian
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allele count: 0
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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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996973057212216e-5
allele num: 66734
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.946e0

VQSLOD
type: SiteQuality
SIO_000300: -1.913e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.08e0

MQRankSum
type: SiteQuality
SIO_000300: -9.148e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.026e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.49e0

DP
type: SiteQuality
SIO_000300: 2.25127e6

QD
type: SiteQuality
SIO_000300: 8.69e0

GenotypeQuality
all individuals: 22497
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8342
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3916
bin: 8.25e1
variant carriers: 0