2-166152634-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166152634
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166152634
    reference: chr 2
allele count: 1
allele frequency: 8.273625337150233e-6
allele num: 120866
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.267+34T>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.267+34T>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.267+34T>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.267+34T>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.410+34T>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.267+34T>C
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5940
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16846
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8248
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4371
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19602
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP

2-166152640-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166152640
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166152640
    reference: chr 2
allele count: 1
allele frequency: 8.276775368316504e-6
allele num: 120820
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.267+40A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.267+40A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.267+40A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.267+40A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.410+40A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.267+40A>G
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16644
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8166
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2417
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19010
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

2-166152645-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166152645
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166152645
    reference: chr 2
allele count: 3
allele frequency: 2.483896073788273e-5
allele num: 120778
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.267+45G>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.410+45G>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.267+45G>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.267+45G>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.267+45G>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.267+45G>A
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16341
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11801
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 537
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

2-166152646-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166152646
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166152646
    reference: chr 2
allele count: 1
allele frequency: 8.279242283746192e-6
allele num: 120784
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.267+46T>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.267+46T>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.410+46T>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.267+46T>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.267+46T>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.267+46T>C
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3408
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12028
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17769
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4356
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4006
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13432
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

2-166152651-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166152651
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166152651
    reference: chr 2
allele count: 3058
allele frequency: 2.534394165423504e-2
allele num: 120660
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.267+51G>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.410+51G>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.267+51G>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.267+51G>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.267+51G>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.267+51G>A
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 7.25e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 6043
  bin: 3.75e1
  variant carriers: 387
genotype depth: GenotypeDepth
  all individuals: 11637
  bin: 3.25e1
  variant carriers: 369
genotype depth: GenotypeDepth
  all individuals: 11505
  bin: 2.25e1
  variant carriers: 145
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 5.25e1
  variant carriers: 251
genotype depth: GenotypeDepth
  all individuals: 15657
  bin: 2.75e1
  variant carriers: 252
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 6.25e1
  variant carriers: 163
genotype depth: GenotypeDepth
  all individuals: 2563
  bin: 4.75e1
  variant carriers: 298
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 1.75e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 5.75e1
  variant carriers: 201
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 4.25e1
  variant carriers: 379
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 9.75e1
  variant carriers: 135
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 6.75e1
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2290
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4948
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15752
  bin: 9.75e1
  variant carriers: 2967
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1911
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 68
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum

2-166152652-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166152652
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166152652
    reference: chr 2
allele count: 1
allele frequency: 8.286651861182008e-6
allele num: 120676
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.410+52G>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.267+52G>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.267+52G>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.267+52G>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.267+52G>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.267+52G>A
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15808
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3619
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11711
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11272
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6067
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5163
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4182
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2001
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14479
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-166152652-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166152652
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166152652
    reference: chr 2
allele count: 1
allele frequency: 8.286651861182008e-6
allele num: 120676
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.267+52G>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.267+52G>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.267+52G>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.410+52G>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.267+52G>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.267+52G>C
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6067
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11711
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15808
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3619
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2001
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5163
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15129
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7780
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-166153483-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166153483
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166153483
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 28272
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.268-44A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.268-44A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.268-44A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.411-44A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.268-44A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.268-44A>G
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18428
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25274
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3435
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4314
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5546
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2514
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1645
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

2-166153485-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166153485
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166153485
    reference: chr 2
allele count: 1
allele frequency: 3.495281370150297e-5
allele num: 28610
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.268-42A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.268-42A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.411-42A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.268-42A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.268-42A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.268-42A>G
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24290
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19767
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4811
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1752
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14305
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6214
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19491
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3186
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

2-166153487-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166153487
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166153487
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 28874
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.268-40A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.268-40A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.268-40A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.268-40A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.411-40A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.268-40A>G
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21556
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22775
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4033
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1469
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16865
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2417
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19067
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6214
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

2-166153487-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166153487
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166153487
    reference: chr 2
allele count: 1
allele frequency: 3.463323405139572e-5
allele num: 28874
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.268-40A>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.268-40A>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.268-40A>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.268-40A>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.268-40A>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.411-40A>T
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22775
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21556
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1469
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16865
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2417
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19067
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4033
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1598
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1604
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-166153490-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166153490
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166153490
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 29380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.268-37C>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.268-37C>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.268-37C>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.411-37C>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.268-37C>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.268-37C>A
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 24765
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3348
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19795
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17396
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1723
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20952
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2917
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6213
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1585
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1929
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/2-166153492-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166153492
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166153492
    reference: chr 2
allele count: 2
allele frequency: 6.643194047698133e-5
allele num: 30106
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.268-35A>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.268-35A>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.268-35A>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.411-35A>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.268-35A>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.268-35A>C
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17658
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26826
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23588
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1376
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2322
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1803
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2234
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

2-166153499-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166153499
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166153499
    reference: chr 2
allele count: 56967
allele frequency: 8.249869663442043e-1
allele num: 69052
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.268-28A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.411-28A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.268-28A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.268-28A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.268-28A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.268-28A>G
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 2.5e0
  variant carriers: 2463
genotype depth: GenotypeDepth
  all individuals: 20506
  bin: 7.5e0
  variant carriers: 18085
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 5.25e1
  variant carriers: 884
genotype depth: GenotypeDepth
  all individuals: 15737
  bin: 1.25e1
  variant carriers: 15477
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.25e1
  variant carriers: 610
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.75e1
  variant carriers: 594
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 8.25e1
  variant carriers: 443
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 4.75e1
  variant carriers: 768
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.25e1
  variant carriers: 701
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 3.25e1
  variant carriers: 637
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 2.25e1
  variant carriers: 1931
genotype depth: GenotypeDepth
  all individuals: 5749
  bin: 1.75e1
  variant carriers: 5719
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 3.75e1
  variant carriers: 576
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 6.25e1
  variant carriers: 899
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 6.75e1
  variant carriers: 830
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.75e1
  variant carriers: 877
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.75e1
  variant carriers: 284
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 9.75e1
  variant carriers: 1690
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.25e1
  variant carriers: 203
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 2.75e1
  variant carriers: 989
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 6.25e1
  variant carriers: 847
genotype quality: GenotypeQuality
  all individuals: 1681
  bin: 4.25e1
  variant carriers: 1675
genotype quality: GenotypeQuality
  all individuals: 1987
  bin: 2.5e0
  variant carriers: 169
genotype quality: GenotypeQuality
  all individuals: 1766
  bin: 7.5e0
  variant carriers: 1074
genotype quality: GenotypeQuality
  all individuals: 1796
  bin: 5.25e1
  variant carriers: 1791
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 8.25e1
  variant carriers: 766
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 7.75e1
  variant carriers: 714
genotype quality: GenotypeQuality
  all individuals: 2545
  bin: 4.75e1
  variant carriers: 2544
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 5.75e1
  variant carriers: 778
genotype quality: GenotypeQuality
  all individuals: 3084
  bin: 2.75e1
  variant carriers: 3021
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 1.25e1
  variant carriers: 1621
genotype quality: GenotypeQuality
  all individuals: 4664
  bin: 1.75e1
  variant carriers: 4615
genotype quality: GenotypeQuality
  all individuals: 7059
  bin: 2.25e1
  variant carriers: 6009
num of homozygotes: 23178
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

2-166153511-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166153511
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166153511
    reference: chr 2
allele count: 3
allele frequency: 4.061408496466574e-5
allele num: 73866
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.411-16G>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.268-16G>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.268-16G>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.268-16G>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.268-16G>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.268-16G>A
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20649
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7582
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15172
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18029
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4801
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6867
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4441
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7943
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2049
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

2-166153518-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166153518
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166153518
    reference: chr 2
allele count: 5
allele frequency: 6.602926416988009e-5
allele num: 75724
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.268-9C>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.268-9C>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.411-9C>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.268-9C>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.268-9C>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.268-9C>T
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12685
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11786
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18556
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4454
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11653
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1661
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5954
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 1.25e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

2-166153529-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166153529
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166153529
    reference: chr 2
allele count: 3
allele frequency: 3.593330778075891e-5
allele num: 83488
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.413G>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.270G>A
  hgvsp: ENST00000375427.2:c.270G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.270G>A
  hgvsp: ENST00000283256.6:c.270G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.270G>A
  hgvsp: ENST00000424833.1:c.270G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.270G>A
  hgvsp: ENST00000375437.2:c.270G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.270G>A
  hgvsp: ENST00000357398.3:c.270G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20162
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17863
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3086
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7704
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2051
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 9.25e1
  variant carriers: 0
hgvs: c.270G>A
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

2-166153535-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166153535
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166153535
    reference: chr 2
allele count: 2
allele frequency: 2.262597008846754e-5
allele num: 88394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.276A>T
  hgvsp: ENST00000375427.2:c.276A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.276A>T
  hgvsp: ENST00000357398.3:c.276A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.276A>T
  hgvsp: ENST00000424833.1:c.276A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.276A>T
  hgvsp: ENST00000375437.2:c.276A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.419A>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.276A>T
  hgvsp: ENST00000283256.6:c.276A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15727
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24019
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5838
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2274
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2653
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15353
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile92Ile
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

2-166153555-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166153555
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166153555
    reference: chr 2
allele count: 1
allele frequency: 9.980637563127532e-6
allele num: 100194
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.296C>T
  hgvsp: ENSP00000283256.6:p.Ala99Val
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.296C>T
  hgvsp: ENSP00000349973.3:p.Ala99Val
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.296C>T
  hgvsp: ENSP00000364576.2:p.Ala99Val
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.439C>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.296C>T
  hgvsp: ENSP00000406454.1:p.Ala99Val
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.296C>T
  hgvsp: ENSP00000364586.2:p.Ala99Val
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10040
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5315
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5897
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10518
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala99Val
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

2-166153559-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166153559
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166153559
    reference: chr 2
allele count: 2
allele frequency: 1.967729240456513e-5
allele num: 101640
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.300C>G
  hgvsp: ENSP00000364586.2:p.Ile100Met
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.300C>G
  hgvsp: ENSP00000349973.3:p.Ile100Met
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.443C>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.300C>G
  hgvsp: ENSP00000283256.6:p.Ile100Met
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.300C>G
  hgvsp: ENSP00000406454.1:p.Ile100Met
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.300C>G
  hgvsp: ENSP00000364576.2:p.Ile100Met
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9391
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5587
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30301
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9989
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2773
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30591
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile100Met
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-166153568-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166153568
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166153568
    reference: chr 2
allele count: 1
allele frequency: 9.56150918861033e-6
allele num: 104586
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.309C>A
  hgvsp: ENSP00000364586.2:p.Phe103Leu
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.309C>A
  hgvsp: ENSP00000406454.1:p.Phe103Leu
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.452C>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.309C>A
  hgvsp: ENSP00000283256.6:p.Phe103Leu
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.309C>A
  hgvsp: ENSP00000349973.3:p.Phe103Leu
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.309C>A
  hgvsp: ENSP00000364576.2:p.Phe103Leu
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7987
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3035
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6400
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31051
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8922
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1219
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Phe103Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD

2-166153573-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166153573
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166153573
    reference: chr 2
allele count: 1
allele frequency: 9.507691722603586e-6
allele num: 105178
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.314C>G
  hgvsp: ENSP00000349973.3:p.Ala105Gly
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.314C>G
  hgvsp: ENSP00000406454.1:p.Ala105Gly
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.314C>G
  hgvsp: ENSP00000364586.2:p.Ala105Gly
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.314C>G
  hgvsp: ENSP00000283256.6:p.Ala105Gly
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.457C>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.314C>G
  hgvsp: ENSP00000364576.2:p.Ala105Gly
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29780
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7678
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2884
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1744
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala105Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

2-166153620-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166153620
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166153620
    reference: chr 2
allele count: 2
allele frequency: 1.873606505161786e-5
allele num: 106746
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.361T>G
  hgvsp: ENSP00000364586.2:p.Leu121Val
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.504T>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.361T>G
  hgvsp: ENSP00000283256.6:p.Leu121Val
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.361T>G
  hgvsp: ENSP00000406454.1:p.Leu121Val
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.361T>G
  hgvsp: ENSP00000349973.3:p.Leu121Val
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.361T>G
  hgvsp: ENSP00000364576.2:p.Leu121Val
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2541
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7315
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7033
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2760
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu121Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

2-166153662-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166153662
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166153662
    reference: chr 2
allele count: 36
allele frequency: 3.541424833257914e-4
allele num: 101654
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.386+17C>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.386+17C>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.386+17C>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.529+17C>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.386+17C>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.386+17C>T
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15642
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14366
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8757
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5553
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5472
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14223
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3863
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17374
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4987
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD

2-166153663-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166153663
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166153663
    reference: chr 2
allele count: 5
allele frequency: 4.926302514384804e-5
allele num: 101496
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.386+18G>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.529+18G>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.386+18G>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.386+18G>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.386+18G>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.386+18G>A
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8799
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5385
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14544
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5718
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3902
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5899
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14268
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5088
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17087
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

2-166153671-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166153671
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166153671
    reference: chr 2
allele count: 1
allele frequency: 9.926740653973675e-6
allele num: 100738
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.386+26A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.386+26A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.529+26A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.386+26A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.386+26A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.386+26A>G
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7098
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4641
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14397
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5744
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3741
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4111
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

2-166153675-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166153675
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166153675
    reference: chr 2
allele count: 1
allele frequency: 9.987216363055289e-6
allele num: 100128
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.386+30G>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.386+30G>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.529+30G>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.386+30G>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.386+30G>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.386+30G>A
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15256
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4386
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14080
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6029
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5896
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4182
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP

2-166153684-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166153684
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166153684
    reference: chr 2
allele count: 1
allele frequency: 1.009958187731028e-5
allele num: 99014
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.386+39C>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.386+39C>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.386+39C>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.386+39C>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.386+39C>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.529+39C>G
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15040
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9639
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10605
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10362
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4322
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13379
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11143
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6421
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum

2-166153690-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166153690
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166153690
    reference: chr 2
allele count: 1
allele frequency: 1.019160211985324e-5
allele num: 98120
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.386+45C>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.386+45C>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.386+45C>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.529+45C>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.386+45C>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.386+45C>T
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14740
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10699
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10051
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10553
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12501
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2900
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1818
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6521
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5888
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2111
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9126
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1247
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4315
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-166153691-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166153691
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166153691
    reference: chr 2
allele count: 181
allele frequency: 1.850337354324269e-3
allele num: 97820
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.529+46C>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.386+46C>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.386+46C>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.386+46C>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.386+46C>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.386+46C>A
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 3.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14664
  bin: 1.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10131
  bin: 7.5e0
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 10576
  bin: 2.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10679
  bin: 1.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3570
  bin: 2.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6508
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1988
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1617
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1867
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5109
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8671
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 6026
  bin: 9.75e1
  variant carriers: 178
genotype quality: GenotypeQuality
  all individuals: 3044
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12222
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 1
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/2-166164309-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166164309
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166164309
    reference: chr 2
allele count: 1
allele frequency: 8.245654540057389e-6
allele num: 121276
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.530-49A>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.387-49A>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.387-49A>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.387-49A>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.387-49A>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.387-49A>C
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5438
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2820
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5753
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3752
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4798
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3092
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4074
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5936
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48499
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2256
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2243
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

2-166164317-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166164317
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166164317
    reference: chr 2
allele count: 1
allele frequency: 8.25000825000825e-6
allele num: 121212
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.387-41G>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.387-41G>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.530-41G>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.387-41G>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.387-41G>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.387-41G>C
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6264
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4658
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5437
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5752
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5939
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4797
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5442
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4074
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3092
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48488
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1873
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2244
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS

2-166164318-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166164318
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166164319
    reference: chr 2
allele count: 1
allele frequency: 8.246470510621453e-6
allele num: 121264
alternate allele: AT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.387-35dupT
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.387-35dupT
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.387-35dupT
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.387-35dupT
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.530-35dupT
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.387-35dupT
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5437
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3092
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6264
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3754
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4074
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5441
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4797
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5940
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5753
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1879
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1740
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum

2-166164324-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166164324
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166164324
    reference: chr 2
allele count: 1
allele frequency: 8.248239000973292e-6
allele num: 121238
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.530-34C>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.387-34C>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.387-34C>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.387-34C>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.387-34C>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.387-34C>G
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6278
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4808
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5747
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5938
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5445
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4070
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3763
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2446
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1741
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1869
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1533
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

2-166164324-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166164324
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166164324
    reference: chr 2
allele count: 84
allele frequency: 6.928520760817565e-4
allele num: 121238
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.387-34C>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.387-34C>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.387-34C>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.530-34C>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.387-34C>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.387-34C>T
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3763
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5445
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4808
  bin: 6.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6278
  bin: 9.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 4656
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5938
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5427
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4070
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5747
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1869
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48504
  bin: 9.75e1
  variant carriers: 83
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1533
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2446
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 1
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD

2-166164326-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166164326
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166164326
    reference: chr 2
allele count: 2
allele frequency: 1.649484536082474e-5
allele num: 121250
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.530-32A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.387-32A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.387-32A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.387-32A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.387-32A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.387-32A>G
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4073
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3763
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4800
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6262
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5940
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5752
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1742
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48488
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2243
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2475
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/2-166164330-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166164330
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166164330
    reference: chr 2
allele count: 2
allele frequency: 1.649294102124291e-5
allele num: 121264
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.387-28A>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.387-28A>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.530-28A>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.387-28A>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.387-28A>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.387-28A>C
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4072
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5753
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6263
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5446
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5942
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3766
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4800
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1738
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48489
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  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2511
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1875
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/2-166164331-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166164331
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166164331
    reference: chr 2
allele count: 1
allele frequency: 8.245926512302922e-6
allele num: 121272
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.387-27A>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.530-27A>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.387-27A>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.387-27A>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.387-27A>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.387-27A>C
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3770
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4072
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6262
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4662
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5942
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5446
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4800
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5754
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1738
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
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genotype quality: GenotypeQuality
  all individuals: 2243
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genotype quality: GenotypeQuality
  all individuals: 15
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genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

2-166164332-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166164332
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166164332
    reference: chr 2
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.387-26C>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.530-26C>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.387-26C>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.387-26C>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.387-26C>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.387-26C>T
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5945
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4799
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4073
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6263
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5752
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3770
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3095
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5446
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2244
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2541
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1743
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1875
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

2-166164347-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166164347
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166164347
    reference: chr 2
allele count: 4
allele frequency: 3.296576505299247e-5
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.530-11C>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.387-11C>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.387-11C>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.387-11C>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.387-11C>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.387-11C>T
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5422
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4661
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5752
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4799
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5946
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6263
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3766
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5446
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4073
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48492
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2599
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

2-166164348-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166164348
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166164348
    reference: chr 2
allele count: 887
allele frequency: 7.30991742348074e-3
allele num: 121342
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.387-10G>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.387-10G>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.387-10G>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.530-10G>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  clinical significance: benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.387-10G>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.387-10G>A
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4613
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4747
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5395
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5358
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 8.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 7.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 5700
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 3731
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 9.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 7.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 6786
  bin: 9.75e1
  variant carriers: 726
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 8.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 5882
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 19
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

2-166164351-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166164351
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166164351
    reference: chr 2
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.387-7A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.530-7A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.387-7A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.387-7A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.387-7A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.387-7A>G
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3774
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4787
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5462
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6165
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2875
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5955
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4665
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4070
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2636
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
hgvs: c.387-7A>G
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ

2-166164384-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166164384
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166164384
    reference: chr 2
allele count: 2
allele frequency: 1.647690761397901e-5
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.413C>T
  hgvsp: ENSP00000349973.3:p.Thr138Met
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.413C>T
  hgvsp: ENSP00000364586.2:p.Thr138Met
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.556C>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.413C>T
  hgvsp: ENSP00000283256.6:p.Thr138Met
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.413C>T
  hgvsp: ENSP00000406454.1:p.Thr138Met
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.413C>T
  hgvsp: ENSP00000364576.2:p.Thr138Met
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4662
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4070
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4787
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3774
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5955
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5462
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6167
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2268
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2674
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  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
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr138Met
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ

2-166164385-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166164385
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166164385
    reference: chr 2
allele count: 3
allele frequency: 2.471536142096851e-5
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.414G>A
  hgvsp: ENST00000283256.6:c.414G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.414G>A
  hgvsp: ENST00000424833.1:c.414G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.414G>A
  hgvsp: ENST00000375437.2:c.414G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.414G>A
  hgvsp: ENST00000375427.2:c.414G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.557G>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.414G>A
  hgvsp: ENST00000357398.3:c.414G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4662
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6168
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4787
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5955
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5462
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4071
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48356
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1596
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1764
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr138Thr
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

2-166164403-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166164403
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166164403
    reference: chr 2
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.432A>G
  hgvsp: ENST00000375437.2:c.432A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.432A>G
  hgvsp: ENST00000424833.1:c.432A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.432A>G
  hgvsp: ENST00000283256.6:c.432A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.432A>G
  hgvsp: ENST00000357398.3:c.432A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.575A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.432A>G
  hgvsp: ENST00000375427.2:c.432A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6167
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5955
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4787
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4072
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2670
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1598
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val144Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

2-166164403-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166164403
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166164403
    reference: chr 2
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.432A>T
  hgvsp: ENST00000283256.6:c.432A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.432A>T
  hgvsp: ENST00000375437.2:c.432A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.432A>T
  hgvsp: ENST00000375427.2:c.432A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.432A>T
  hgvsp: ENST00000357398.3:c.432A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.575A>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.432A>T
  hgvsp: ENST00000424833.1:c.432A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6167
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4787
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4072
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5955
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5461
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1765
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1598
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48356
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2268
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val144Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD

2-166164406-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166164406
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166164406
    reference: chr 2
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.435T>A
  hgvsp: ENSP00000283256.6:p.Phe145Leu
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.435T>A
  hgvsp: ENSP00000406454.1:p.Phe145Leu
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.578T>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.435T>A
  hgvsp: ENSP00000349973.3:p.Phe145Leu
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.435T>A
  hgvsp: ENSP00000364576.2:p.Phe145Leu
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.435T>A
  hgvsp: ENSP00000364586.2:p.Phe145Leu
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4787
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4072
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6166
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5956
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1765
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2268
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1599
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Phe145Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-166164413-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166164413
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166164413
    reference: chr 2
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.442A>G
  hgvsp: ENSP00000283256.6:p.Met148Val
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.442A>G
  hgvsp: ENSP00000364586.2:p.Met148Val
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.585A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.442A>G
  hgvsp: ENSP00000364576.2:p.Met148Val
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.442A>G
  hgvsp: ENSP00000406454.1:p.Met148Val
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.442A>G
  hgvsp: ENSP00000349973.3:p.Met148Val
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5956
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4787
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4072
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6166
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5462
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4662
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2674
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2268
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1765
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Met148Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

2-166164422-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166164422
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166164422
    reference: chr 2
allele count: 2
allele frequency: 1.647907980818351e-5
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.451C>T
  hgvsp: ENSP00000364586.2:p.Pro151Ser
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.451C>T
  hgvsp: ENSP00000406454.1:p.Pro151Ser
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.594C>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.451C>T
  hgvsp: ENSP00000283256.6:p.Pro151Ser
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.451C>T
  hgvsp: ENSP00000349973.3:p.Pro151Ser
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.451C>T
  hgvsp: ENSP00000364576.2:p.Pro151Ser
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4787
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5956
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4662
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6165
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4072
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5462
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5766
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2666
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1764
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro151Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

2-166164456-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166164456
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166164456
    reference: chr 2
allele count: 1
allele frequency: 8.249736008447729e-6
allele num: 121216
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.476+9A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.476+9A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.476+9A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.476+9A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.619+9A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.476+9A>G
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5956
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4787
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4071
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5462
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6165
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1758
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1571
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2267
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48354
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

2-166164468-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166164468
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166164468
    reference: chr 2
allele count: 6
allele frequency: 4.951965930474398e-5
allele num: 121164
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.476+21A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.476+21A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.476+21A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.476+21A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.619+21A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.476+21A>G
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5462
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4071
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5765
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4788
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6167
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4658
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5955
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1754
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2418
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ

2-166164473-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166164473
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166164473
    reference: chr 2
allele count: 1
allele frequency: 8.25722920416825e-6
allele num: 121106
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.476+26G>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.619+26G>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.476+26G>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.476+26G>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.476+26G>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.476+26G>A
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4654
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3109
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5463
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6165
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5956
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5765
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4787
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4071
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2266
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2344
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1750
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ

2-166164474-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166164474
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166164474
    reference: chr 2
allele count: 1
allele frequency: 8.258456659619451e-6
allele num: 121088
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.619+27A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.476+27A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.476+27A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.476+27A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.476+27A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.476+27A>G
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5463
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4071
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6165
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5956
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4787
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5765
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4654
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2267
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2294
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

2-166164479-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166164479
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166164479
    reference: chr 2
allele count: 4
allele frequency: 3.304310473012045e-5
allele num: 121054
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.476+32C>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.476+32C>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.619+32C>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.476+32C>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.476+32C>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.476+32C>T
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4787
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4070
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3731
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5463
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5957
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5431
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4651
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6165
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2267
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48350
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1889
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD

2-166164480-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166164480
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166164480
    reference: chr 2
allele count: 1
allele frequency: 8.262687356435807e-6
allele num: 121026
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.476+33C>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.476+33C>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.476+33C>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.476+33C>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.619+33C>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.476+33C>G
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4651
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5431
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4787
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5464
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6166
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5955
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1888
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2267
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1501
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

2-166165141-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166165141
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166165141
    reference: chr 2
allele count: 1
allele frequency: 8.316146630297385e-6
allele num: 120248
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.477-35A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.477-35A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.620-35A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.477-35A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.477-35A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.477-35A>G
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8960
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9544
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5968
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4113
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30087
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7869
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3898
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4279
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

2-166165146-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166165146
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166165146
    reference: chr 2
allele count: 1
allele frequency: 8.314210648840998e-6
allele num: 120276
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.477-30T>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.620-30T>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.477-30T>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.477-30T>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.477-30T>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.477-30T>C
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9560
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8963
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5968
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8241
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30088
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3898
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
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genotype quality: GenotypeQuality
  all individuals: 4282
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-166165147-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166165147
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166165147
    reference: chr 2
allele count: 2
allele frequency: 1.6628421297682e-5
allele num: 120276
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.477-29T>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.620-29T>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.477-29T>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.477-29T>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.477-29T>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.477-29T>C
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5969
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8964
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7654
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2514
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7974
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2385
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4286
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

2-166165150-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166165150
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166165150
    reference: chr 2
allele count: 1
allele frequency: 8.312690152787244e-6
allele num: 120298
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.477-26A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.477-26A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.620-26A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.477-26A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.477-26A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.477-26A>G
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8966
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5970
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8271
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8084
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3901
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30086
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff

2-166165153-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166165153
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166165153
    reference: chr 2
allele count: 1
allele frequency: 8.311722853913159e-6
allele num: 120312
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.477-23T>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.477-23T>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.477-23T>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.477-23T>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.477-23T>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.620-23T>C
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8967
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5968
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4073
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3899
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 30086
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8126
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-166165154-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166165154
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166165154
    reference: chr 2
allele count: 1
allele frequency: 8.311446524153063e-6
allele num: 120316
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.477-22G>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.477-22G>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.477-22G>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.477-22G>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.620-22G>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.477-22G>T
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8968
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5968
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8144
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4073
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2389
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3900
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-166165156-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166165156
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166165156
    reference: chr 2
allele count: 1
allele frequency: 8.312137383006666e-6
allele num: 120306
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.477-20G>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.620-20G>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.477-20G>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.477-20G>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.477-20G>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.477-20G>A
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5969
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3053
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8968
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8308
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3900
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8152
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2521
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  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: G
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

2-166165172-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166165172
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166165172
    reference: chr 2
allele count: 1
allele frequency: 8.303854649328218e-6
allele num: 120426
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.620-4T>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.477-4T>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.477-4T>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.477-4T>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.477-4T>C
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.477-4T>C
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8971
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8391
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5968
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3053
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4126
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8295
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2388
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
hgvs: c.477-4T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

2-166165176-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166165176
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166165176
    reference: chr 2
allele count: 1
allele frequency: 8.303027283747654e-6
allele num: 120438
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.477G>A
  hgvsp: ENST00000283256.6:c.477G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.477G>A
  hgvsp: ENST00000357398.3:c.477G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.477G>A
  hgvsp: ENST00000424833.1:c.477G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.477G>A
  hgvsp: ENST00000375437.2:c.477G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.620G>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000486878
  gene symbol: SCN2A
  hgvsc: ENST00000486878.1:n.1G>A
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.477G>A
  hgvsp: ENST00000375427.2:c.477G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8420
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3583
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5969
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3053
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7652
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8972
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30084
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4128
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
hgvs: c.477G>A
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff

2-166165182-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166165182
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166165182
    reference: chr 2
allele count: 1
allele frequency: 8.299581701082266e-6
allele num: 120488
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.483C>G
  hgvsp: ENST00000424833.1:c.483C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.483C>G
  hgvsp: ENST00000375427.2:c.483C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.483C>G
  hgvsp: ENST00000375437.2:c.483C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.483C>G
  hgvsp: ENST00000283256.6:c.483C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000486878
  gene symbol: SCN2A
  hgvsc: ENST00000486878.1:n.7C>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.626C>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.483C>G
  hgvsp: ENST00000357398.3:c.483C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5969
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7653
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3054
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8970
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8440
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4080
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4130
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2524
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2390
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr161Thr
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

2-166165206-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166165206
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166165206
    reference: chr 2
allele count: 1
allele frequency: 8.288162845823595e-6
allele num: 120654
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.507A>G
  hgvsp: ENST00000424833.1:c.507A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.650A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000486878
  gene symbol: SCN2A
  hgvsc: ENST00000486878.1:n.31A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.507A>G
  hgvsp: ENST00000375437.2:c.507A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.507A>G
  hgvsp: ENST00000375427.2:c.507A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.507A>G
  hgvsp: ENST00000357398.3:c.507A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.507A>G
  hgvsp: ENST00000283256.6:c.507A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5970
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8968
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7657
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3054
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4139
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2524
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu169Glu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

2-166165218-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166165218
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166165218
    reference: chr 2
allele count: 28
allele frequency: 2.31960898020048e-4
allele num: 120710
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000486878
  gene symbol: SCN2A
  hgvsc: ENST00000486878.1:n.43A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.519A>G
  hgvsp: ENST00000357398.3:c.519A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.519A>G
  hgvsp: ENST00000424833.1:c.519A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.519A>G
  hgvsp: ENST00000375427.2:c.519A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.519A>G
  hgvsp: ENST00000375437.2:c.519A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.519A>G
  hgvsp: ENST00000283256.6:c.519A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.662A>G
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7652
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5969
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3695
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8967
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3051
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4370
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2393
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys173Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

2-166165227-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166165227
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166165227
    reference: chr 2
allele count: 1
allele frequency: 8.282122210995345e-6
allele num: 120742
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.528A>G
  hgvsp: ENST00000375427.2:c.528A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000486878
  gene symbol: SCN2A
  hgvsc: ENST00000486878.1:n.52A>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.528A>G
  hgvsp: ENST00000357398.3:c.528A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.528A>G
  hgvsp: ENST00000424833.1:c.528A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.528A>G
  hgvsp: ENST00000283256.6:c.528A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.528A>G
  hgvsp: ENST00000375437.2:c.528A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.671A>G
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5973
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8536
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7657
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9631
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8970
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30074
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4141
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala176Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

2-166165261-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166165261
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166165261
    reference: chr 2
allele count: 3
allele frequency: 2.482662738542511e-5
allele num: 120838
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.562C>T
  hgvsp: ENSP00000283256.6:p.Arg188Trp
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.562C>T
  hgvsp: ENSP00000364576.2:p.Arg188Trp
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.562C>T
  hgvsp: ENSP00000364586.2:p.Arg188Trp
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.562C>T
  hgvsp: ENSP00000349973.3:p.Arg188Trp
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.705C>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.562C>T
  hgvsp: ENSP00000406454.1:p.Arg188Trp
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000486878
  gene symbol: SCN2A
  hgvsc: ENST00000486878.1:n.86C>T
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5975
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9630
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8970
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7660
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2530
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4136
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4381
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg188Trp
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

2-166165278-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166165278
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166165278
    reference: chr 2
allele count: 1
allele frequency: 8.276364358664525e-6
allele num: 120826
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.579G>T
  hgvsp: ENSP00000283256.6:p.Trp193Cys
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.579G>T
  hgvsp: ENSP00000349973.3:p.Trp193Cys
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.579G>T
  hgvsp: ENSP00000364586.2:p.Trp193Cys
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.722G>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.579G>T
  hgvsp: ENSP00000406454.1:p.Trp193Cys
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000486878
  gene symbol: SCN2A
  hgvsc: ENST00000486878.1:n.103G>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.579G>T
  hgvsp: ENSP00000364576.2:p.Trp193Cys
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5972
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8965
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7654
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8587
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3766
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4079
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30075
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3900
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2530
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8699
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Trp193Cys
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

2-166165287-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166165287
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166165287
    reference: chr 2
allele count: 1
allele frequency: 8.278693953241936e-6
allele num: 120792
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.588C>T
  hgvsp: ENST00000424833.1:c.588C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.588C>T
  hgvsp: ENST00000375437.2:c.588C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.588C>T
  hgvsp: ENST00000283256.6:c.588C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.588C>T
  hgvsp: ENST00000357398.3:c.588C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.588C>T
  hgvsp: ENST00000375427.2:c.588C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.731C>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000486878
  gene symbol: SCN2A
  hgvsc: ENST00000486878.1:n.112C>T
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5973
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7652
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8965
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2529
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Phe196Phe
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP

2-166165290-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166165290
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166165290
    reference: chr 2
allele count: 1
allele frequency: 8.278831029058698e-6
allele num: 120790
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000486878
  gene symbol: SCN2A
  hgvsc: ENST00000486878.1:n.115A>T
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.591A>T
  hgvsp: ENST00000283256.6:c.591A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.591A>T
  hgvsp: ENST00000424833.1:c.591A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.591A>T
  hgvsp: ENST00000357398.3:c.591A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.591A>T
  hgvsp: ENST00000375427.2:c.591A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.591A>T
  hgvsp: ENST00000375437.2:c.591A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.734A>T
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8965
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8584
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5973
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7651
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8653
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2392
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4126
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr197Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

2-166165293-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166165293
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166165293
    reference: chr 2
allele count: 1
allele frequency: 8.281573498964803e-6
allele num: 120750
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000486878
  gene symbol: SCN2A
  hgvsc: ENST00000486878.1:n.118C>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364576
  ensembl transcript: ENST00000375427
  gene symbol: SCN2A
  hgvsc: ENST00000375427.2:c.594C>G
  hgvsp: ENST00000375427.2:c.594C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000406454
  ensembl transcript: ENST00000424833
  gene symbol: SCN2A
  hgvsc: ENST00000424833.1:c.594C>G
  hgvsp: ENST00000424833.1:c.594C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000364586
  ensembl transcript: ENST00000375437
  gene symbol: SCN2A
  hgvsc: ENST00000375437.2:c.594C>G
  hgvsp: ENST00000375437.2:c.594C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136531
  ensembl transcript: ENST00000480032
  gene symbol: SCN2A
  hgvsc: ENST00000480032.1:n.737C>G
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000349973
  ensembl transcript: ENST00000357398
  gene symbol: SCN2A
  hgvsc: ENST00000357398.3:c.594C>G
  hgvsp: ENST00000357398.3:c.594C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136531
  ensembl protein: ENSP00000283256
  ensembl transcript: ENST00000283256
  gene symbol: SCN2A
  hgvsc: ENST00000283256.6:c.594C>G
  hgvsp: ENST00000283256.6:c.594C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10588
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5973
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9617
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val198Val
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 28
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 347
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5191
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13430
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4005
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2417
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10076
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

MQRankSum
type: SiteQuality
SIO_000300: 1.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.22e-1

FS
type: SiteQuality
SIO_000300: 3.075e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.174e1

DP
type: SiteQuality
SIO_000300: 2.05552e6

GenotypeQuality
all individuals: 5194
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1998
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13429
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4007
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4360
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 4.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10046
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.538e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.05182e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.28e0

MQRankSum
type: SiteQuality
SIO_000300: 1.81e0

FS
type: SiteQuality
SIO_000300: 2.542e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.659e-1

MQ
type: SiteQuality
SIO_000300: 5.911e1

GenotypeQuality
all individuals: 417
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2416
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 641
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2001
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5199
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18030
bin: 6.25e1
variant carriers: 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: 11498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.966115208291808e-5
allele num: 10034
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.003003003003003e-5
allele num: 66600
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.569e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.219e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.69e-1

QD
type: SiteQuality
SIO_000300: 1.214e1

DP
type: SiteQuality
SIO_000300: 2.04898e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

GenotypeQuality
all individuals: 2416
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5206
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 724
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2002
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8129
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
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: 11500
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.966115208291808e-5
allele num: 10034
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66602
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e0

MQ
type: SiteQuality
SIO_000300: 5.895e1

DP
type: SiteQuality
SIO_000300: 2.048526e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.2e-2

VQSLOD
type: SiteQuality
SIO_000300: -8.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.46e-1

QD
type: SiteQuality
SIO_000300: 1.008e1

GenotypeQuality
all individuals: 567
bin: 3.75e1
variant carriers: 3

GenotypeQuality
all individuals: 7650
bin: 6.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1069
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 15892
bin: 6.25e1
variant carriers: 6

GenotypeQuality
all individuals: 4105
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 354
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3805
bin: 8.25e1
variant carriers: 1

South Asian
type: Population
allele count: 174
allele frequency: 1.054673293732574e-2
allele num: 16498
num of homozygotes: 4

European (Non-Finnish)
type: Population
allele count: 2233
allele frequency: 3.35597703567886e-2
allele num: 66538
num of homozygotes: 47

Latino
type: Population
allele count: 177
allele frequency: 1.540738161559889e-2
allele num: 11488
num of homozygotes: 5

African
type: Population
allele count: 64
allele frequency: 6.39872025594881e-3
allele num: 10002
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 389
allele frequency: 5.902883156297421e-2
allele num: 6590
num of homozygotes: 12

Other
type: Population
allele count: 20
allele frequency: 2.207505518763797e-2
allele num: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.95e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.092075e6

QD
type: SiteQuality
SIO_000300: 1.537e1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

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

GenotypeQuality
all individuals: 7780
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1479
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2479
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15129
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4016
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502087902184036e-5
allele num: 66574
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9994
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.89e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.61e-1

FS
type: SiteQuality
SIO_000300: 2.499e0

DP
type: SiteQuality
SIO_000300: 2.093414e6

MQRankSum
type: SiteQuality
SIO_000300: -4.62e-1

QD
type: SiteQuality
SIO_000300: 1.49e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.92e-1

GenotypeQuality
all individuals: 2479
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14479
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4016
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1029
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 858
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4182
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.158211721102618e-4
allele num: 8634
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9994
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66574
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.499e0

DP
type: SiteQuality
SIO_000300: 2.093414e6

MQ
type: SiteQuality
SIO_000300: 5.97e1

VQSLOD
type: SiteQuality
SIO_000300: 8.89e-1

QD
type: SiteQuality
SIO_000300: 1.49e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.67e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.92e-1

GenotypeQuality
all individuals: 775
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19199
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 6211
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11670
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1200
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2896
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1534
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 284
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12968
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

QD
type: SiteQuality
SIO_000300: 1.769e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.62e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.824e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.95e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.7991e5

GenotypeQuality
all individuals: 226
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1684
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2940
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.17096018735363e-4
allele num: 8540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1542
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1226
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13200
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.93808e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.473e0

FS
type: SiteQuality
SIO_000300: 2.879e0

MQRankSum
type: SiteQuality
SIO_000300: 8.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.65e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.74e-2

QD
type: SiteQuality
SIO_000300: 1.868e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.04e-1

GenotypeQuality
all individuals: 47
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 668
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1598
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 177
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1604
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13384
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1252
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1552
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2972
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

QD
type: SiteQuality
SIO_000300: 1.598e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.02e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
SIO_000300: 2.529e0

VQSLOD
type: SiteQuality
SIO_000300: 8.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.34e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.09533e5

ClippingRankSum
type: SiteQuality
SIO_000300: 6.36e-1

GenotypeQuality
all individuals: 297
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6214
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 515
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13384
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1252
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.364737550471063e-4
allele num: 2972
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.41e-1

DP
type: SiteQuality
SIO_000300: 8.09533e5

QD
type: SiteQuality
SIO_000300: 1.598e1

MQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

FS
type: SiteQuality
SIO_000300: 2.529e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.02e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.34e0

GenotypeQuality
all individuals: 300
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 590
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 4.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3044
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13680
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1584
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1284
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.27e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.51e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

DP
type: SiteQuality
SIO_000300: 8.34684e5

GenotypeQuality
all individuals: 146
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15882
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6219
bin: 9.75e1
variant carriers: 2

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14134
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1620
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.141327623126338e-3
allele num: 934
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 298
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3108
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.666e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

DP
type: SiteQuality
SIO_000300: 8.51984e5

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.91e-2

VQSLOD
type: SiteQuality
SIO_000300: -5.373e-1

GenotypeQuality
all individuals: 4153
bin: 3.75e1
variant carriers: 4138

GenotypeQuality
all individuals: 692
bin: 8.75e1
variant carriers: 667

GenotypeQuality
all individuals: 685
bin: 6.75e1
variant carriers: 614

GenotypeQuality
all individuals: 497
bin: 7.25e1
variant carriers: 461

GenotypeQuality
all individuals: 695
bin: 9.25e1
variant carriers: 656

GenotypeQuality
all individuals: 5350
bin: 3.25e1
variant carriers: 5321

GenotypeQuality
all individuals: 17403
bin: 9.75e1
variant carriers: 17179

South Asian
type: Population
allele count: 8579
allele frequency: 7.353848791359506e-1
allele num: 11666
num of homozygotes: 3113

Other
type: Population
allele count: 469
allele frequency: 8.058419243986255e-1
allele num: 582
num of homozygotes: 189

African
type: Population
allele count: 5317
allele frequency: 8.34170065892689e-1
allele num: 6374
num of homozygotes: 2178

European (Non-Finnish)
type: Population
allele count: 31281
allele frequency: 8.543920026220911e-1
allele num: 36612
num of homozygotes: 13182

European (Finnish)
type: Population
allele count: 3236
allele frequency: 7.970443349753694e-1
allele num: 4060
num of homozygotes: 1257

Latino
type: Population
allele count: 4879
allele frequency: 8.368782161234991e-1
allele num: 5830
num of homozygotes: 1989

East Asian
type: Population
allele count: 3206
allele frequency: 8.161914460285132e-1
allele num: 3928
num of homozygotes: 1270

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.34e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

DP
type: SiteQuality
SIO_000300: 1.33557e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.34e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.093e1

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.73e0

GenotypeQuality
all individuals: 339
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1453
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1001
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1224
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5901
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 283
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4430
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6798
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12016
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6304
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 7.646039351615863e-5
allele num: 39236
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.666e0

DP
type: SiteQuality
SIO_000300: 1.212648e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.992e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e-1

QD
type: SiteQuality
SIO_000300: 4.35e0

GenotypeQuality
all individuals: 825
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 642
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 738
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 919
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3265
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5892
bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4688
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12208
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6970
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.243719217949356e-4
allele num: 40202
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.98e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.237e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.89e-1

DP
type: SiteQuality
SIO_000300: 1.262005e6

MQRankSum
type: SiteQuality
SIO_000300: -4.86e-1

FS
type: SiteQuality
SIO_000300: 4.2332e1

QD
type: SiteQuality
SIO_000300: 5.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.178e1

MQ
type: SiteQuality
SIO_000300: 5.704e1

GenotypeQuality
all individuals: 5899
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 20317
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 854
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3237
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3575
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1668
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17117
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1087
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12874
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7264
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.605523710265763e-4
allele num: 7676
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44324
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5046
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.4e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e0

VQSLOD
type: SiteQuality
SIO_000300: -9.409999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.367889e6

MQRankSum
type: SiteQuality
SIO_000300: 2.53e-1

FS
type: SiteQuality
SIO_000300: 1.0457e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

GenotypeQuality
all individuals: 179
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1144
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2543
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5900
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 23963
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6208
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.506250941406838e-4
allele num: 13278
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7824
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46976
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8100
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 704
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.7e0

DP
type: SiteQuality
SIO_000300: 1.421527e6

VQSLOD
type: SiteQuality
SIO_000300: -1.24e0

FS
type: SiteQuality
SIO_000300: 1.0197e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

QD
type: SiteQuality
SIO_000300: 1.277e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

GenotypeQuality
all individuals: 30072
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 772
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2708
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1202
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1372
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 777
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9198
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7210
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9114
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14306
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5880
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.86219739292365e-5
allele num: 53700
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.78e-1

DP
type: SiteQuality
SIO_000300: 1.548041e6

FS
type: SiteQuality
SIO_000300: 9.409999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.227e0

MQ
type: SiteQuality
SIO_000300: 5.833e1

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.75e0

QD
type: SiteQuality
SIO_000300: 1.559e1

GenotypeQuality
all individuals: 5901
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 147
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 748
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 889
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 778
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 820
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1214
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 983
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5916
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.664480193484555e-5
allele num: 54578
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9384
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9202
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7330
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14432
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.01e-1

MQ
type: SiteQuality
SIO_000300: 5.835e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.204e0

FS
type: SiteQuality
SIO_000300: 1.057e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.398e0

QD
type: SiteQuality
SIO_000300: 1.104e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e-1

DP
type: SiteQuality
SIO_000300: 1.560706e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.01e-1

GenotypeQuality
all individuals: 540
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2918
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1401
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5898
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1285
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 912
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1112
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6044
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.772546795235394e-5
allele num: 56416
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9748
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9364
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7502
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14694
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.49e0

VQSLOD
type: SiteQuality
SIO_000300: -3.187e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.6e-2

MQ
type: SiteQuality
SIO_000300: 5.944e1

MQRankSum
type: SiteQuality
SIO_000300: -8.52e-1

DP
type: SiteQuality
SIO_000300: 1.588415e6

FS
type: SiteQuality
SIO_000300: 1.148e0

QD
type: SiteQuality
SIO_000300: 2.14e0

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

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

GenotypeQuality
all individuals: 1004
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5902
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 29971
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8807
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 958
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1180
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9422
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56708
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9860
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.768647624204685e-5
allele num: 14774
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6064
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7530
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-2

DP
type: SiteQuality
SIO_000300: 1.593703e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.08e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.54e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 9.96e-1

QD
type: SiteQuality
SIO_000300: 1.369e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.06e-1

GenotypeQuality
all individuals: 10066
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29971
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1190
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 955
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5906
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1784
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9938
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6166
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9562
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7662
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15128
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.480318797201824e-5
allele num: 57466
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

MQRankSum
type: SiteQuality
SIO_000300: 4.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.576935e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.43e0

VQSLOD
type: SiteQuality
SIO_000300: 4.85e-1

QD
type: SiteQuality
SIO_000300: 1.789e1

GenotypeQuality
all individuals: 880
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1119
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5927
bin: 9.75e1
variant carriers: 35

GenotypeQuality
all individuals: 469
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2173
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2948
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 921
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 9
allele frequency: 6.092607636068237e-4
allele num: 14772
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 23
allele frequency: 4.239006229496111e-4
allele num: 54258
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7280
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.16076058772688e-4
allele num: 9256
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.077354018530489e-4
allele num: 9282
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.657824933687003e-4
allele num: 6032
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.202e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.74e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.436546e6

QD
type: SiteQuality
SIO_000300: 1.286e1

GenotypeQuality
all individuals: 3024
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2178
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1119
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9238
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.081782778018174e-4
allele num: 9244
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54188
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.033622559652928e-4
allele num: 14752
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.37438152831226e-4
allele num: 7276
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6022
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.23e0

MQRankSum
type: SiteQuality
SIO_000300: -4.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.447e0

DP
type: SiteQuality
SIO_000300: 1.431663e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

QD
type: SiteQuality
SIO_000300: 1.11e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 295
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5897
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1115
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2081
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15138
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6000
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.861365497729134e-5
allele num: 53724
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7214
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9168
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14714
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9150
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 7.49e-1

DP
type: SiteQuality
SIO_000300: 1.405527e6

FS
type: SiteQuality
SIO_000300: 1.4e0

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.23e-1

QD
type: SiteQuality
SIO_000300: 1.121e1

GenotypeQuality
all individuals: 2040
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1360
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1290
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13782
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1119
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4110
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.820351930159596e-5
allele num: 14662
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9156
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9092
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7158
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53334
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5964
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.383e0

VQSLOD
type: SiteQuality
SIO_000300: -4.164e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.07e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.072e0

QD
type: SiteQuality
SIO_000300: 4.35e0

DP
type: SiteQuality
SIO_000300: 1.395253e6

GenotypeQuality
all individuals: 1839
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 769
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2052
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1946
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variant carriers: 0

GenotypeQuality
all individuals: 4833
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5893
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 700
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8946
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9064
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52712
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.871907641561298e-5
allele num: 14552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7054
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5930
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

DP
type: SiteQuality
SIO_000300: 1.375221e6

QD
type: SiteQuality
SIO_000300: 1.204e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.791e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.777e0

VQSLOD
type: SiteQuality
SIO_000300: -5.02e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

GenotypeQuality
all individuals: 5121
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1172
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1600
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1885
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 841
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1108
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8840
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8982
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.903216899074968e-5
allele num: 14486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52120
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5918
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7016
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 5.73e0

FS
type: SiteQuality
SIO_000300: 2.208e0

MQRankSum
type: SiteQuality
SIO_000300: -7.64e-1

DP
type: SiteQuality
SIO_000300: 1.367275e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.695e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.507e0

VQSLOD
type: SiteQuality
SIO_000300: -1.637e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

GenotypeQuality
all individuals: 784
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 463
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 4286
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2136
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 768
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 838
bin: 8.25e1
variant carriers: 1

African
type: Population
allele count: 169
allele frequency: 1.884478144513827e-2
allele num: 8968
num of homozygotes: 1

Latino
type: Population
allele count: 5
allele frequency: 5.686988171064604e-4
allele num: 8792
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5894
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.652519893899204e-3
allele num: 754
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14460
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6994
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 9.623157165402825e-5
allele num: 51958
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.264e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.17e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.97e-1

QD
type: SiteQuality
SIO_000300: 1.289e1

VQSLOD
type: SiteQuality
SIO_000300: 4.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.367431e6

GenotypeQuality
all individuals: 1537
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 899
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1876
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1744
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500015000150001e-5
allele num: 66666
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: 10390
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 6.13e0

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 3.877868e6

MQ
type: SiteQuality
SIO_000300: 5.939e1

VQSLOD
type: SiteQuality
SIO_000300: 6.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.62e0

QD
type: SiteQuality
SIO_000300: 1.511e1

GenotypeQuality
all individuals: 1527
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1728
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2389
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1197
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66622
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: 11538
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 6.48e-1

QD
type: SiteQuality
SIO_000300: 3.211e1

VQSLOD
type: SiteQuality
SIO_000300: -4.365e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.045e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 3.879221e6

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 39
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48499
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2248
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2391
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1201
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66658
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: 8650
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e0

DP
type: SiteQuality
SIO_000300: 3.879337e6

MQRankSum
type: SiteQuality
SIO_000300: -7.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.026e1

FS
type: SiteQuality
SIO_000300: 2.183e0

QD
type: SiteQuality
SIO_000300: 1.068e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

GenotypeQuality
all individuals: 2242
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 887
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48504
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1193
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.26e0

MQRankSum
type: SiteQuality
SIO_000300: 2.13e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

FS
type: SiteQuality
SIO_000300: 1.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.672e0

DP
type: SiteQuality
SIO_000300: 3.881265e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.99e-1

QD
type: SiteQuality
SIO_000300: 1.467e1

GenotypeQuality
all individuals: 2242
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1193
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1741
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 887
bin: 7.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 82
allele frequency: 4.970299430233967e-3
allele num: 16498
num of homozygotes: 1

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

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

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

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.672e0

FS
type: SiteQuality
SIO_000300: 1.15e0

MQRankSum
type: SiteQuality
SIO_000300: 2.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.99e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

VQSLOD
type: SiteQuality
SIO_000300: 3.26e0

DP
type: SiteQuality
SIO_000300: 3.881265e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.01e-1

QD
type: SiteQuality
SIO_000300: 1.467e1

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1195
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1542
bin: 6.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66642
num of homozygotes: 0

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 3.880218e6

FS
type: SiteQuality
SIO_000300: 2.9357e1

MQRankSum
type: SiteQuality
SIO_000300: 4.89e-1

QD
type: SiteQuality
SIO_000300: 1.307e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.71e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.123e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.832e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
all individuals: 894
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1195
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2244
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000840235265874e-5
allele num: 66648
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.8806e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

VQSLOD
type: SiteQuality
SIO_000300: -2.939e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -5.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.49e-1

QD
type: SiteQuality
SIO_000300: 1.732e1

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48488
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1195
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2522
bin: 6.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66648
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 3.880647e6

MQRankSum
type: SiteQuality
SIO_000300: 3.56e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

FS
type: SiteQuality
SIO_000300: 1.458e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e0

VQSLOD
type: SiteQuality
SIO_000300: 4.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.834e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.11e0

QD
type: SiteQuality
SIO_000300: 1.572e1

GenotypeQuality
all individuals: 47
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48490
bin: 9.75e1
variant carriers: 1

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499880009599232e-5
allele num: 66672
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.792e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.37e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

MQRankSum
type: SiteQuality
SIO_000300: -1.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.2e-1

DP
type: SiteQuality
SIO_000300: 3.880607e6

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1571
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1745
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2244
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 900
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49802087081684e-5
allele num: 66696
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.36e-1

QD
type: SiteQuality
SIO_000300: 1.372e1

DP
type: SiteQuality
SIO_000300: 3.881427e6

MQRankSum
type: SiteQuality
SIO_000300: -5.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.704e0

VQSLOD
type: SiteQuality
SIO_000300: 3.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.986e1

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48528
bin: 9.75e1
variant carriers: 868

GenotypeQuality
all individuals: 2601
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2229
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variant carriers: 0

GenotypeQuality
all individuals: 1568
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1744
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 20
allele frequency: 3.024803387779794e-3
allele num: 6612
num of homozygotes: 0

Other
type: Population
allele count: 9
allele frequency: 9.911894273127754e-3
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 64
allele frequency: 3.87737792317945e-3
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 125
allele frequency: 1.874062968515742e-3
allele num: 66700
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.592912705272256e-4
allele num: 11570
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 5.772561092938234e-4
allele num: 10394
num of homozygotes: 0

East Asian
type: Population
allele count: 660
allele frequency: 7.628294036061026e-2
allele num: 8652
num of homozygotes: 19

DP
type: SiteQuality
SIO_000300: 3.945536e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.62e-1

QD
type: SiteQuality
SIO_000300: 1.327e1

FS
type: SiteQuality
SIO_000300: 8.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.72e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.96e0

MQRankSum
type: SiteQuality
SIO_000300: 3.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.69e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48358
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 909
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variant carriers: 0

GenotypeQuality
all individuals: 1766
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1900
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1595
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2268
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e0

VQSLOD
type: SiteQuality
SIO_000300: -8.056e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.56e0

FS
type: SiteQuality
SIO_000300: 2.897e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.36e-1

DP
type: SiteQuality
SIO_000300: 3.875858e6

QD
type: SiteQuality
SIO_000300: 8.109999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.59e1

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

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1899
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variant carriers: 0

GenotypeQuality
all individuals: 1206
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1596
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 1764
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48357
bin: 9.75e1
variant carriers: 2

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

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.28e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.39e-2

FS
type: SiteQuality
SIO_000300: 5.66e0

QD
type: SiteQuality
SIO_000300: 1.125e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.69e0

MQRankSum
type: SiteQuality
SIO_000300: 1.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

DP
type: SiteQuality
SIO_000300: 3.876445e6

MQ
type: SiteQuality
SIO_000300: 5.948e1

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2679
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 2268
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variant carriers: 0

GenotypeQuality
all individuals: 1901
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 4.25e1
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: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21153380179307e-4
allele num: 16508
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 3.876685e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.72e0

FS
type: SiteQuality
SIO_000300: 1.855e0

QD
type: SiteQuality
SIO_000300: 9.720000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -3.825e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.44e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.55e-1

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

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 48356
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 2268
bin: 9.25e1
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GenotypeQuality
all individuals: 1206
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variant carriers: 0

GenotypeQuality
all individuals: 1765
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1900
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
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allele frequency: 8.637070305752289e-5
allele num: 11578
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 count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: 0.0e0

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

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

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

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

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

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

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e0

BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
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VQSLOD
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ClippingRankSum
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SIO_000300: -2.07e-1

FS
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

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

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

African
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allele num: 10402
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.19e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.981e1

QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: 3.41e-1

DP
type: SiteQuality
SIO_000300: 3.876369e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-1

ReadPosRankSum
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SIO_000300: -4.6e-1

GenotypeQuality
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variant carriers: 1

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

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

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

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

African
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allele frequency: 0.0e0
allele num: 10394
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South Asian
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allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

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

DP
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.182e1

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: 1.79e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.01e-1

VQSLOD
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 1899
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997601918465228e-5
allele num: 66720
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.06e1

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

DP
type: SiteQuality
SIO_000300: 3.876054e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 7.44e-1

FS
type: SiteQuality
SIO_000300: 5.075e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.957e1

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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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11570
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
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.73e0

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.872433e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.61e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.82e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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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: 0
allele frequency: 0.0e0
allele num: 66692
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
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African
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allele frequency: 5.861664712778429e-4
allele num: 10236
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
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
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num of homozygotes: 0

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

Other
type: Population
allele count: 0
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allele num: 906
num of homozygotes: 0

Latino
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allele frequency: 8.656509695290859e-5
allele num: 11552
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East Asian
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South Asian
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African
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allele frequency: 0.0e0
allele num: 10188
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

InbreedingCoeff
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DP
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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VQSLOD
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FS
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QD
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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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variant carriers: 0

African
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allele num: 10176
num of homozygotes: 0

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

Latino
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allele num: 11550
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South Asian
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African
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.499880009599232e-5
allele num: 66672
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Other
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East Asian
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European (Finnish)
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MQ
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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FS
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MQRankSum
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VQSLOD
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DP
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

Latino
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allele frequency: 8.655011251514626e-5
allele num: 11554
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6610
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African
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allele frequency: 0.0e0
allele num: 10132
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66670
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Other
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FS
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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QD
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DP
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MQRankSum
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BaseQRankSum
type: SiteQuality
SIO_000300: -5.212e0

VQSLOD
type: SiteQuality
SIO_000300: 3.5e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2511
bin: 7.25e1
variant carriers: 0

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16484
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: 9846
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.111111111111111e-3
allele num: 900
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.66e-1

FS
type: SiteQuality
SIO_000300: 8.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.353e0

VQSLOD
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MQ
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SIO_000300: 5.971e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.82e0

QD
type: SiteQuality
SIO_000300: 1.785e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.63e0

DP
type: SiteQuality
SIO_000300: 2.640838e6

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9850
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -3.36e-1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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QD
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FS
type: SiteQuality
SIO_000300: 6.576e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9854
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.013954609843576e-5
allele num: 66358
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.67e-1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.77e-1

FS
type: SiteQuality
SIO_000300: 3.062e0

DP
type: SiteQuality
SIO_000300: 2.641959e6

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

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.953e1

GenotypeQuality
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bin: 7.25e1
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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variant carriers: 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: 66368
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.514233797698365e-4
allele num: 6604
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9862
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.94e0

FS
type: SiteQuality
SIO_000300: 2.902e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.67e0

MQRankSum
type: SiteQuality
SIO_000300: 7.5e-2

MQ
type: SiteQuality
SIO_000300: 5.98e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.93e-1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.643016e6

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 1.013993104846887e-4
allele num: 9862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66378
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.66e0

DP
type: SiteQuality
SIO_000300: 2.643612e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.943e1

MQRankSum
type: SiteQuality
SIO_000300: -4.02e-1

QD
type: SiteQuality
SIO_000300: 1.333e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.11e-1

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -4.86e-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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bin: 4.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66380
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.013581998783702e-4
allele num: 9866
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: 16488
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.674e0

MQRankSum
type: SiteQuality
SIO_000300: 1.49e0

VQSLOD
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QD
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BaseQRankSum
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SIO_000300: -2.335e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
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DP
type: SiteQuality
SIO_000300: 2.643862e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e-2

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9864
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.50665943470138e-5
allele num: 66372
num of homozygotes: 0

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
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BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 2.644199e6

ReadPosRankSum
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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European (Non-Finnish)
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allele count: 1
allele frequency: 1.505072092953252e-5
allele num: 66442
num of homozygotes: 0

Latino
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allele num: 11468
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9904
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
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South Asian
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allele count: 0
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Other
type: Population
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allele num: 900
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.69e-1

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.946e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

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

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

Latino
type: Population
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allele frequency: 8.716875871687587e-5
allele num: 11472
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66442
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African
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South Asian
type: Population
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FS
type: SiteQuality
SIO_000300: 1.282e0

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.896e1

MQRankSum
type: SiteQuality
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11480
num of homozygotes: 0

African
type: Population
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Other
type: Population
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allele frequency: 0.0e0
allele num: 902
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504392827055001e-5
allele num: 66472
num of homozygotes: 0

South Asian
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European (Finnish)
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East Asian
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MQ
type: SiteQuality
SIO_000300: 5.911e1

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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DP
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QD
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9974
num of homozygotes: 0

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

Latino
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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
allele num: 16494
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502629601803156e-5
allele num: 66550
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.72e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.905e1

BaseQRankSum
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SIO_000300: 2.96e0

FS
type: SiteQuality
SIO_000300: 2.319e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.255e0

MQRankSum
type: SiteQuality
SIO_000300: 4.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e0

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 28

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66568
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

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

South Asian
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allele count: 28
allele frequency: 1.697587001333818e-3
allele num: 16494
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9992
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.652646e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.49e0

VQSLOD
type: SiteQuality
SIO_000300: 3.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.984e1

QD
type: SiteQuality
SIO_000300: 1.497e1

FS
type: SiteQuality
SIO_000300: 5.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.57e-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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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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bin: 3.75e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10002
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66598
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.77e-1

DP
type: SiteQuality
SIO_000300: 2.652467e6

FS
type: SiteQuality
SIO_000300: 7.507e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

QD
type: SiteQuality
SIO_000300: 1.47e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.211e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.503422601176894e-5
allele num: 66616
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10062
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.971e1

MQRankSum
type: SiteQuality
SIO_000300: -5.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.33e0

DP
type: SiteQuality
SIO_000300: 2.654158e6

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.29e-1

QD
type: SiteQuality
SIO_000300: 1.293e1

GenotypeQuality
all individuals: 8
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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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10056
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: 6598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501185936890143e-5
allele num: 66614
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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MQRankSum
type: SiteQuality
SIO_000300: -1.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.467e0

FS
type: SiteQuality
SIO_000300: 5.622e0

MQ
type: SiteQuality
SIO_000300: 5.904e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.116e0

QD
type: SiteQuality
SIO_000300: 9.800000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

VQSLOD
type: SiteQuality
SIO_000300: -1.374e0

DP
type: SiteQuality
SIO_000300: 2.653312e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10044
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16500
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.501456412720339e-5
allele num: 66602
num of homozygotes: 0

East Asian
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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: 902
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.146e0

MQRankSum
type: SiteQuality
SIO_000300: 3.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.0e-2

QD
type: SiteQuality
SIO_000300: 8.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.45e-1

FS
type: SiteQuality
SIO_000300: 8.66e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

DP
type: SiteQuality
SIO_000300: 2.652683e6

GenotypeQuality
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bin: 3.25e1
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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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10038
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501321162623108e-5
allele num: 66608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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MQ
type: SiteQuality
SIO_000300: 5.886e1

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
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QD
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

DP
type: SiteQuality
SIO_000300: 2.652371e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.81e0