2-166903300-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166903300
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166903300
    reference: chr 2
allele count: 1
allele frequency: 8.248102936324645e-6
allele num: 121240
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+19561T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+10660T>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1357A>C
  hgvsp: ENSP00000364554.3:p.Lys453Gln
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1357A>C
  hgvsp: ENSP00000303540.4:p.Lys453Gln
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+10660T>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1357A>C
  hgvsp: ENSP00000386312.1:p.Lys453Gln
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1357A>C
  hgvsp: ENSP00000407030.2:p.Lys453Gln
  variant of: http://identifiers.org/hgnc/10585
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2291
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys453Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD

2-166903306-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166903306
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166903306
    reference: chr 2
allele count: 1
allele frequency: 8.246334504312833e-6
allele num: 121266
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1351C>G
  hgvsp: ENSP00000407030.2:p.Leu451Val
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1351C>G
  hgvsp: ENSP00000303540.4:p.Leu451Val
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+10666G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1351C>G
  hgvsp: ENSP00000364554.3:p.Leu451Val
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1351C>G
  hgvsp: ENSP00000386312.1:p.Leu451Val
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+19567G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+10666G>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5996
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16475
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4649
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16459
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu451Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ

2-166903314-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166903314
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166903314
    reference: chr 2
allele count: 7
allele frequency: 5.771101620855113e-5
allele num: 121294
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+10674A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+19575A>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1343T>C
  hgvsp: ENSP00000303540.4:p.Ile448Thr
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1343T>C
  hgvsp: ENSP00000386312.1:p.Ile448Thr
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1343T>C
  hgvsp: ENSP00000364554.3:p.Ile448Thr
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+10674A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1343T>C
  hgvsp: ENSP00000407030.2:p.Ile448Thr
  variant of: http://identifiers.org/hgnc/10585
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5996
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13578
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 16482
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile448Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-166903318-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166903318
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166903318
    reference: chr 2
allele count: 2
allele frequency: 1.64883180266781e-5
allele num: 121298
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1339A>G
  hgvsp: ENSP00000303540.4:p.Met447Val
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1339A>G
  hgvsp: ENSP00000364554.3:p.Met447Val
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1339A>G
  hgvsp: ENSP00000386312.1:p.Met447Val
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+19579T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+10678T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1339A>G
  hgvsp: ENSP00000407030.2:p.Met447Val
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+10678T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16476
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10517
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5177
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3335
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Met447Val
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

2-166903331-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166903331
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166903331
    reference: chr 2
allele count: 2
allele frequency: 1.648532805802836e-5
allele num: 121320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1326C>T
  hgvsp: ENST00000423058.2:c.1326C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1326C>T
  hgvsp: ENST00000303395.4:c.1326C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1326C>T
  hgvsp: ENST00000409050.1:c.1326C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+10691G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1326C>T
  hgvsp: ENST00000375405.3:c.1326C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+10691G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+19592G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13578
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5179
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4648
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3335
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala442Ala
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ

2-166903334-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166903334
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166903334
    reference: chr 2
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1323G>A
  hgvsp: ENST00000303395.4:c.1323G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+10694C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1323G>A
  hgvsp: ENST00000409050.1:c.1323G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1323G>A
  hgvsp: ENST00000375405.3:c.1323G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+10694C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1323G>A
  hgvsp: ENST00000423058.2:c.1323G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+19595C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5999
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10524
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5178
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3335
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6669
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3407
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu441Glu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

2-166903353-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166903353
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166903353
    reference: chr 2
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+10713T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+19614T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1304A>G
  hgvsp: ENSP00000303540.4:p.Glu435Gly
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1304A>G
  hgvsp: ENSP00000386312.1:p.Glu435Gly
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1304A>G
  hgvsp: ENSP00000364554.3:p.Glu435Gly
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1304A>G
  hgvsp: ENSP00000407030.2:p.Glu435Gly
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+10713T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16458
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13590
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3406
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3336
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5179
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu435Gly
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-166903356-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166903356
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166903356
    reference: chr 2
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+10716A>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1301T>G
  hgvsp: ENSP00000386312.1:p.Leu434Trp
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1301T>G
  hgvsp: ENSP00000303540.4:p.Leu434Trp
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+10716A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+19617A>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1301T>G
  hgvsp: ENSP00000407030.2:p.Leu434Trp
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1301T>G
  hgvsp: ENSP00000364554.3:p.Leu434Trp
  variant of: http://identifiers.org/hgnc/10585
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16455
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10530
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3409
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6672
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu434Trp
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-166903379-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166903379
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166903379
    reference: chr 2
allele count: 3
allele frequency: 2.472962279082036e-5
allele num: 121312
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1278C>T
  hgvsp: ENST00000409050.1:c.1278C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1278C>T
  hgvsp: ENST00000375405.3:c.1278C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+19640G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1278C>T
  hgvsp: ENST00000423058.2:c.1278C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1278C>T
  hgvsp: ENST00000303395.4:c.1278C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+10739G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+10739G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13604
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16401
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10537
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6005
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3336
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3407
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Tyr426Tyr
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

2-166903396-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166903396
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166903396
    reference: chr 2
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1261G>C
  hgvsp: ENSP00000386312.1:p.Val421Leu
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1261G>C
  hgvsp: ENSP00000303540.4:p.Val421Leu
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+19657C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1261G>C
  hgvsp: ENSP00000407030.2:p.Val421Leu
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1261G>C
  hgvsp: ENSP00000364554.3:p.Val421Leu
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+10756C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+10756C>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2641
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2293
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18596
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16398
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3405
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val421Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

2-166903409-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166903409
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166903409
    reference: chr 2
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1248T>C
  hgvsp: ENST00000375405.3:c.1248T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1248T>C
  hgvsp: ENST00000409050.1:c.1248T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1248T>C
  hgvsp: ENST00000303395.4:c.1248T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+10769A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1248T>C
  hgvsp: ENST00000423058.2:c.1248T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+10769A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+19670A>G
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5187
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3403
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3337
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16407
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn416Asn
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

2-166903432-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166903432
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166903432
    reference: chr 2
allele count: 2
allele frequency: 1.647962294622699e-5
allele num: 121362
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+10792A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1225T>C
  hgvsp: ENST00000409050.1:c.1225T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1225T>C
  hgvsp: ENST00000423058.2:c.1225T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1225T>C
  hgvsp: ENST00000375405.3:c.1225T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+10792A>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1225T>C
  hgvsp: ENST00000303395.4:c.1225T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+19693A>G
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10544
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2641
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6007
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3408
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2293
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3337
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6692
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18611
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Leu409Leu
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP

2-166903445-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166903445
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166903445
    reference: chr 2
allele count: 85359
allele frequency: 7.033884338381924e-1
allele num: 121354
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+10805T>C
annotation: Annotation
  canonical: true
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1212A>G
  hgvsp: ENST00000303395.4:c.1212A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1212A>G
  hgvsp: ENST00000423058.2:c.1212A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+10805T>C
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1212A>G
  hgvsp: ENST00000409050.1:c.1212A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1212A>G
  hgvsp: ENST00000375405.3:c.1212A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+19706T>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 6.25e1
  variant carriers: 756
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 3.75e1
  variant carriers: 167
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 7.25e1
  variant carriers: 1428
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 2.75e1
  variant carriers: 106
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.25e1
  variant carriers: 352
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.25e1
  variant carriers: 203
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 7.75e1
  variant carriers: 1711
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.75e1
  variant carriers: 291
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 6.75e1
  variant carriers: 1057
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 8.25e1
  variant carriers: 2213
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 2.25e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 3.25e1
  variant carriers: 142
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 8.75e1
  variant carriers: 2405
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.75e1
  variant carriers: 539
genotype depth: GenotypeDepth
  all individuals: 40675
  bin: 9.75e1
  variant carriers: 40640
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 9.25e1
  variant carriers: 2718
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3174
  bin: 6.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 7.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 8.25e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 7.25e1
  variant carriers: 16
hgvs: p.Val404Val
num of homozygotes: 30492
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

2-166903459-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166903459
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166903459
    reference: chr 2
allele count: 1
allele frequency: 8.245654540057389e-6
allele num: 121276
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+10819T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+10819T>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1198A>C
  hgvsp: ENSP00000386312.1:p.Met400Leu
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1198A>C
  hgvsp: ENSP00000303540.4:p.Met400Leu
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1198A>C
  hgvsp: ENSP00000407030.2:p.Met400Leu
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+19720T>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1198A>C
  hgvsp: ENSP00000364554.3:p.Met400Leu
  variant of: http://identifiers.org/hgnc/10585
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20550
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Met400Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD

2-166903463-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166903463
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166903463
    reference: chr 2
allele count: 1
allele frequency: 8.246878556466378e-6
allele num: 121258
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+19724C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1194G>A
  hgvsp: ENST00000409050.1:c.1194G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1194G>A
  hgvsp: ENST00000303395.4:c.1194G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1194G>A
  hgvsp: ENST00000423058.2:c.1194G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1194G>A
  hgvsp: ENST00000375405.3:c.1194G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+10823C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+10823C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20539
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4325
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8738
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9064
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3130
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr398Thr
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

2-166903464-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166903464
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166903464
    reference: chr 2
allele count: 1
allele frequency: 8.247558722618106e-6
allele num: 121248
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1193C>G
  hgvsp: ENSP00000407030.2:p.Thr398Arg
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1193C>G
  hgvsp: ENSP00000364554.3:p.Thr398Arg
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1193C>G
  hgvsp: ENSP00000303540.4:p.Thr398Arg
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+10824G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1193C>G
  hgvsp: ENSP00000386312.1:p.Thr398Arg
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+10824G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+19725G>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20540
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3019
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28781
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3130
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2042
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4324
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr398Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

2-166903473-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166903473
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166903473
    reference: chr 2
allele count: 1
allele frequency: 8.252595441266279e-6
allele num: 121174
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+10833G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+10833G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1184C>T
  hgvsp: ENSP00000303540.4:p.Ala395Val
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1184C>T
  hgvsp: ENSP00000386312.1:p.Ala395Val
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1184C>T
  hgvsp: ENSP00000364554.3:p.Ala395Val
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1184C>T
  hgvsp: ENSP00000407030.2:p.Ala395Val
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+19734G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15859
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5046
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20484
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28700
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9048
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2041
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8726
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1371
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala395Val
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-166903484-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166903484
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166903484
    reference: chr 2
allele count: 2
allele frequency: 1.654068180690408e-5
allele num: 120914
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1173A>G
  hgvsp: ENST00000303395.4:c.1173A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1173A>G
  hgvsp: ENST00000375405.3:c.1173A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+10844T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1173A>G
  hgvsp: ENST00000423058.2:c.1173A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+19745T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1173A>G
  hgvsp: ENST00000409050.1:c.1173A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+10844T>C
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3005
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3122
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9043
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
hgvs: c.1173A>G
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
reference allele: T
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

2-166903490-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166903490
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166903490
    reference: chr 2
allele count: 2
allele frequency: 1.658484808279156e-5
allele num: 120592
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+19751C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+10850C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1171-4G>A
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1171-4G>A
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+10850C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1171-4G>A
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1171-4G>A
  variant of: http://identifiers.org/hgnc/10585
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15715
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2034
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27897
  bin: 6.25e1
  variant carriers: 0
hgvs: c.1171-4G>A
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-166903491-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166903491
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166903491
    reference: chr 2
allele count: 1
allele frequency: 8.296138976920141e-6
allele num: 120538
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+10851A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+10851A>G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1171-5T>C
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1171-5T>C
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+19752A>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1171-5T>C
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1171-5T>C
  variant of: http://identifiers.org/hgnc/10585
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2085
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1363
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2959
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4269
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 2.25e1
  variant carriers: 0
hgvs: c.1171-5T>C
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-166903494-CAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166903494
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166903492
    reference: chr 2
allele count: 3237
allele frequency: 2.684881059022594e-2
allele num: 120564
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+10858_66+10859delAA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1171-10_1171-9delTT
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1171-10_1171-9delTT
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1171-10_1171-9delTT
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+19759_424+19760delAA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1171-10_1171-9delTT
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+10858_115+10859delAA
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 334
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 4.75e1
  variant carriers: 275
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.25e1
  variant carriers: 242
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 3385
  bin: 4.25e1
  variant carriers: 224
genotype depth: GenotypeDepth
  all individuals: 15650
  bin: 3.25e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 5.25e1
  variant carriers: 323
genotype depth: GenotypeDepth
  all individuals: 6649
  bin: 3.75e1
  variant carriers: 153
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.75e1
  variant carriers: 281
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.75e1
  variant carriers: 192
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.25e1
  variant carriers: 110
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4966
  bin: 2.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 9.75e1
  variant carriers: 361
genotype depth: GenotypeDepth
  all individuals: 20190
  bin: 2.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 5.75e1
  variant carriers: 324
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.75e1
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 63
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11321
  bin: 9.75e1
  variant carriers: 3172
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27219
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8105
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 59
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: CAA
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP

2-166903494-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166903494
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166903494
    reference: chr 2
allele count: 1
allele frequency: 8.294349888855711e-6
allele num: 120564
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1171-8G>C
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+19755C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+10854C>G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1171-8G>C
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1171-8G>C
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1171-8G>C
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+10854C>G
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6649
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3385
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20190
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2893
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1861
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
hgvs: c.1171-8G>C
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

2-166903501-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166903501
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166903501
    reference: chr 2
allele count: 1
allele frequency: 8.31849867735871e-6
allele num: 120214
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1171-15T>A
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+10861A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1171-15T>A
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+19762A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1171-15T>A
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+10861A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1171-15T>A
  variant of: http://identifiers.org/hgnc/10585
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16149
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6735
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3331
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8621
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1965
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8367
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3056
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/2-166903506-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166903506
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166903506
    reference: chr 2
allele count: 1
allele frequency: 8.337085021593051e-6
allele num: 119946
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+10866A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+10866A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1171-20T>G
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1171-20T>G
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1171-20T>G
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1171-20T>G
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+19767A>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15800
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27484
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2888
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4152
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3046
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP

2-166903508-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166903508
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166903508
    reference: chr 2
allele count: 1
allele frequency: 8.344877079960612e-6
allele num: 119834
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+10868T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1171-22A>C
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+10868T>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1171-22A>C
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+19769T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1171-22A>C
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1171-22A>C
  variant of: http://identifiers.org/hgnc/10585
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20403
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6579
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1965
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8158
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26973
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8616
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

2-166903511-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166903511
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166903511
    reference: chr 2
allele count: 17
allele frequency: 1.422927547877327e-4
allele num: 119472
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+10871T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1171-25A>G
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1171-25A>G
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+10871T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1171-25A>G
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+19772T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1171-25A>G
  variant of: http://identifiers.org/hgnc/10585
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19942
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3078
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14574
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6095
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2226
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2954
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD

2-166903518-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166903518
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166903518
    reference: chr 2
allele count: 1
allele frequency: 8.39066957543212e-6
allele num: 119180
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1171-32T>C
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1171-32T>C
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+10878A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+10878A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+19779A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1171-32T>C
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1171-32T>C
  variant of: http://identifiers.org/hgnc/10585
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4403
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12576
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18192
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3812
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2485
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2738
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2279
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6437
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

2-166903529-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166903529
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166903529
    reference: chr 2
allele count: 1
allele frequency: 8.442095665828085e-6
allele num: 118454
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1171-43G>C
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1171-43G>C
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+10889C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+10889C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1171-43G>C
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+19790C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1171-43G>C
  variant of: http://identifiers.org/hgnc/10585
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13660
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4482
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8067
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2896
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2347
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2114
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14547
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3231
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3365
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3922
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

2-166903529-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166903529
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166903529
    reference: chr 2
allele count: 1
allele frequency: 8.442095665828085e-6
allele num: 118454
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+19790C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1171-43G>A
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1171-43G>A
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1171-43G>A
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1171-43G>A
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+10889C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+10889C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9189
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8067
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13660
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4482
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5572
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3231
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1938
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2896
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14547
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8594
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2114
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

2-166903533-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166903533
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166903533
    reference: chr 2
allele count: 4
allele frequency: 3.387419125368382e-5
allele num: 118084
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+19794G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1171-47C>T
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1171-47C>T
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+10893G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1171-47C>T
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+10893G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1171-47C>T
  variant of: http://identifiers.org/hgnc/10585
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10555
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11962
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4414
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8649
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4556
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1596
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8593
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3659
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1935
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1290
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3437
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2330
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5362
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

2-166904095-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166904095
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166904095
    reference: chr 2
allele count: 1
allele frequency: 8.261185645363822e-6
allele num: 121048
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1170+42T>C
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+11455A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+20356A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+11455A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1170+42T>C
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1170+42T>C
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1170+42T>C
  variant of: http://identifiers.org/hgnc/10585
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4088
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4735
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3602
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5693
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5518
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7839
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5917
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4523
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

2-166904099-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166904099
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166904099
    reference: chr 2
allele count: 4
allele frequency: 3.303819215012555e-5
allele num: 121072
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1170+38A>T
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+20360T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1170+38A>T
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1170+38A>T
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+11459T>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1170+38A>T
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+11459T>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7840
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4087
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5518
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5692
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5917
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4736
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum

2-166904104-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166904104
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166904104
    reference: chr 2
allele count: 1
allele frequency: 8.258593066085262e-6
allele num: 121086
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+11464C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1170+33G>A
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+11464C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1170+33G>A
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+20365C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1170+33G>A
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1170+33G>A
  variant of: http://identifiers.org/hgnc/10585
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5518
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3602
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5693
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5919
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7839
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4735
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4086
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1383
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

2-166904121-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166904121
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166904121
    reference: chr 2
allele count: 3
allele frequency: 2.475165836111019e-5
allele num: 121204
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1170+16C>T
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1170+16C>T
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1170+16C>T
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+11481G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+11481G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+20382G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1170+16C>T
  variant of: http://identifiers.org/hgnc/10585
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5517
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7840
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4735
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4086
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5694
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5919
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5213
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1577
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/2-166904138-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166904138
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166904138
    reference: chr 2
allele count: 2
allele frequency: 1.649130908011478e-5
allele num: 121276
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+11498A>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1169T>G
  hgvsp: ENSP00000303540.4:p.Leu390Arg
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+11498A>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1169T>G
  hgvsp: ENSP00000364554.3:p.Leu390Arg
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+20399A>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1169T>G
  hgvsp: ENSP00000407030.2:p.Leu390Arg
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1169T>G
  hgvsp: ENSP00000386312.1:p.Leu390Arg
  variant of: http://identifiers.org/hgnc/10585
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7840
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4087
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5693
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5919
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5517
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4734
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu390Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

2-166904176-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166904176
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166904176
    reference: chr 2
allele count: 1
allele frequency: 8.244838730954422e-6
allele num: 121288
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1131A>G
  hgvsp: ENST00000423058.2:c.1131A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1131A>G
  hgvsp: ENST00000409050.1:c.1131A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+11536T>C
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+20437T>C
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1131A>G
  hgvsp: ENST00000375405.3:c.1131A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+11536T>C
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance&benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1131A>G
  hgvsp: ENST00000303395.4:c.1131A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5903
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4074
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5508
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4516
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4715
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7947
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3594
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54797
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg377Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

2-166904176-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166904176
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166904176
    reference: chr 2
allele count: 236
allele frequency: 1.945781940505244e-3
allele num: 121288
alternate allele: G
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance&benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1131A>C
  hgvsp: ENST00000303395.4:c.1131A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+11536T>G
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+11536T>G
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+20437T>G
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1131A>C
  hgvsp: ENST00000409050.1:c.1131A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1131A>C
  hgvsp: ENST00000423058.2:c.1131A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1131A>C
  hgvsp: ENST00000375405.3:c.1131A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4074
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5508
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5203
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 8.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7947
  bin: 9.75e1
  variant carriers: 172
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4516
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5903
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3594
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 9.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4715
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg377Arg
num of homozygotes: 1
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum

2-166904200-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166904200
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166904200
    reference: chr 2
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1107T>C
  hgvsp: ENST00000423058.2:c.1107T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+11560A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+20461A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1107T>C
  hgvsp: ENST00000409050.1:c.1107T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1107T>C
  hgvsp: ENST00000375405.3:c.1107T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1107T>C
  hgvsp: ENST00000303395.4:c.1107T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+11560A>G
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3602
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4732
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5697
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4081
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5919
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5521
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7824
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54760
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser369Ser
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: MQ

2-166904201-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166904201
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166904201
    reference: chr 2
allele count: 2
allele frequency: 1.648559982854976e-5
allele num: 121318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1106G>A
  hgvsp: ENSP00000364554.3:p.Ser369Asn
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1106G>A
  hgvsp: ENSP00000303540.4:p.Ser369Asn
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+11561C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1106G>A
  hgvsp: ENSP00000407030.2:p.Ser369Asn
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+11561C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+20462C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1106G>A
  hgvsp: ENSP00000386312.1:p.Ser369Asn
  variant of: http://identifiers.org/hgnc/10585
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5919
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4732
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5697
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3602
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5521
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7825
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4080
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser369Asn
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-166904202-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166904202
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166904202
    reference: chr 2
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+11562T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+11562T>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1105A>C
  hgvsp: ENSP00000303540.4:p.Ser369Arg
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1105A>C
  hgvsp: ENSP00000386312.1:p.Ser369Arg
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1105A>C
  hgvsp: ENSP00000364554.3:p.Ser369Arg
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+20463T>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1105A>C
  hgvsp: ENSP00000407030.2:p.Ser369Arg
  variant of: http://identifiers.org/hgnc/10585
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3602
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5697
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4529
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5521
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5920
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4080
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4733
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7823
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1576
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54760
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser369Arg
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

2-166904209-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166904209
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166904209
    reference: chr 2
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+11569A>G
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+20470A>G
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+11569A>G
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1098T>C
  hgvsp: ENST00000409050.1:c.1098T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1098T>C
  hgvsp: ENST00000303395.4:c.1098T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1098T>C
  hgvsp: ENST00000375405.3:c.1098T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1098T>C
  hgvsp: ENST00000423058.2:c.1098T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5521
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4528
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4733
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3601
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5919
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5698
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4080
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7824
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54759
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp366Asp
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

2-166904210-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166904210
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166904210
    reference: chr 2
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1097A>G
  hgvsp: ENSP00000364554.3:p.Asp366Gly
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+20471T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1097A>G
  hgvsp: ENSP00000407030.2:p.Asp366Gly
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1097A>G
  hgvsp: ENSP00000303540.4:p.Asp366Gly
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+11570T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+11570T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1097A>G
  hgvsp: ENSP00000386312.1:p.Asp366Gly
  variant of: http://identifiers.org/hgnc/10585
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5698
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5521
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4080
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5919
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7823
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3601
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4733
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4529
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp366Gly
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/2-166904211-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166904211
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166904211
    reference: chr 2
allele count: 6
allele frequency: 4.947147969195758e-5
allele num: 121282
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1096G>T
  hgvsp: ENSP00000364554.3:p.Asp366Tyr
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1096G>T
  hgvsp: ENSP00000407030.2:p.Asp366Tyr
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+11571C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1096G>T
  hgvsp: ENSP00000386312.1:p.Asp366Tyr
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1096G>T
  hgvsp: ENSP00000303540.4:p.Asp366Tyr
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+20472C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+11571C>A
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 4080
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5919
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7824
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5698
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5521
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4529
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5224
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4732
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3601
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp366Tyr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum

2-166904212-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166904212
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166904212
    reference: chr 2
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1095T>C
  hgvsp: ENST00000375405.3:c.1095T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1095T>C
  hgvsp: ENST00000303395.4:c.1095T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1095T>C
  hgvsp: ENST00000423058.2:c.1095T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+11572A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+11572A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1095T>C
  hgvsp: ENST00000409050.1:c.1095T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+20473A>G
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4080
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5521
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4732
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5920
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4531
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7824
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3601
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5698
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Phe365Phe
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

2-166904215-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166904215
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166904215
    reference: chr 2
allele count: 3
allele frequency: 2.473533194815474e-5
allele num: 121284
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+20476G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1092C>A
  hgvsp: ENSP00000407030.2:p.Ser364Arg
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1092C>A
  hgvsp: ENSP00000364554.3:p.Ser364Arg
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+11575G>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1092C>A
  hgvsp: ENSP00000303540.4:p.Ser364Arg
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1092C>A
  hgvsp: ENSP00000386312.1:p.Ser364Arg
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+11575G>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4534
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5698
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3598
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4731
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5918
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7827
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4079
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1527
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser364Arg
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

2-166904216-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166904216
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166904216
    reference: chr 2
allele count: 82
allele frequency: 6.76757506231121e-4
allele num: 121166
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+11576C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1091G>A
  hgvsp: ENSP00000303540.4:p.Ser364Asn
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1091G>A
  hgvsp: ENSP00000407030.2:p.Ser364Asn
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1091G>A
  hgvsp: ENSP00000386312.1:p.Ser364Asn
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+11576C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+20477C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1091G>A
  hgvsp: ENSP00000364554.3:p.Ser364Asn
  variant of: http://identifiers.org/hgnc/10585
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 5210
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3599
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5688
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5514
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5907
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7905
  bin: 9.75e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 4724
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4526
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1514
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 8.25e1
  variant carriers: 1
hgvs: p.Ser364Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-166904218-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166904218
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166904217
    reference: chr 2
allele count: 2
allele frequency: 1.64883180266781e-5
allele num: 121298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1088delC
  hgvsp: ENSP00000407030.2:p.Thr363LysfsTer16
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1088delC
  hgvsp: ENSP00000386312.1:p.Thr363LysfsTer16
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+11579delG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+11579delG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+20480delG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1088delC
  hgvsp: ENSP00000364554.3:p.Thr363LysfsTer16
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1088delC
  hgvsp: ENSP00000303540.4:p.Thr363LysfsTer16
  variant of: http://identifiers.org/hgnc/10585
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4065
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4729
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5511
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3285
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5906
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7912
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr363LysfsTer16
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: TG
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

2-166904219-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166904219
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166904219
    reference: chr 2
allele count: 11
allele frequency: 9.205020920502092e-5
allele num: 119500
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+11579G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1088C>A
  hgvsp: ENSP00000386312.1:p.Thr363Lys
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1088C>A
  hgvsp: ENSP00000303540.4:p.Thr363Lys
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+20480G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+11579G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1088C>A
  hgvsp: ENSP00000407030.2:p.Thr363Lys
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1088C>A
  hgvsp: ENSP00000364554.3:p.Thr363Lys
  variant of: http://identifiers.org/hgnc/10585
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4091
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5694
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5489
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4517
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4738
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5880
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8142
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3553
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr363Lys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

2-166904220-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166904220
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166904219
    reference: chr 2
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1086delC
  hgvsp: ENSP00000364554.3:p.Tyr362Ter
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+11581delG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1086delC
  hgvsp: ENSP00000386312.1:p.Tyr362Ter
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+11581delG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1086delC
  hgvsp: ENSP00000407030.2:p.Tyr362Ter
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1086delC
  hgvsp: ENSP00000303540.4:p.Tyr362Ter
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+20482delG
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4083
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5659
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5886
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8406
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Tyr362Ter
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: TG
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-166904221-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166904221
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166904221
    reference: chr 2
allele count: 723
allele frequency: 6.466442472810532e-3
allele num: 111808
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+11581G>T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1086C>A
  hgvsp: ENSP00000364554.3:p.Tyr362Ter
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1086C>A
  hgvsp: ENSP00000303540.4:p.Tyr362Ter
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1086C>A
  hgvsp: ENSP00000407030.2:p.Tyr362Ter
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+11581G>T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1086C>A
  hgvsp: ENSP00000386312.1:p.Tyr362Ter
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+20482G>T
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 4032
  bin: 8.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 4367
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5605
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5449
  bin: 7.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 9.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3247
  bin: 8.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5827
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 9252
  bin: 9.75e1
  variant carriers: 614
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5102
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 4712
  bin: 7.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 8.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 4578
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 9.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 5
hgvs: p.Tyr362Ter
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: G
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-166904227-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166904227
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166904227
    reference: chr 2
allele count: 2
allele frequency: 1.648261084555794e-5
allele num: 121340
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+11587A>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1080T>C
  hgvsp: ENST00000303395.4:c.1080T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1080T>C
  hgvsp: ENST00000409050.1:c.1080T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+11587A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1080T>C
  hgvsp: ENST00000375405.3:c.1080T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1080T>C
  hgvsp: ENST00000423058.2:c.1080T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+20488A>G
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5692
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4055
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4752
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4515
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5901
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7682
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1711
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Tyr360Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP

2-166904242-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166904242
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166904242
    reference: chr 2
allele count: 2
allele frequency: 1.648206751054852e-5
allele num: 121344
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1065T>C
  hgvsp: ENST00000303395.4:c.1065T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+11602A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+20503A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1065T>C
  hgvsp: ENST00000409050.1:c.1065T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1065T>C
  hgvsp: ENST00000423058.2:c.1065T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+11602A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1065T>C
  hgvsp: ENST00000375405.3:c.1065T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4055
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5691
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7684
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4515
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4751
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5901
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54828
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly355Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ

2-166904253-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166904253
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166904253
    reference: chr 2
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1054G>A
  hgvsp: ENSP00000386312.1:p.Val352Met
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+11613C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1054G>A
  hgvsp: ENSP00000364554.3:p.Val352Met
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1054G>A
  hgvsp: ENSP00000407030.2:p.Val352Met
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1054G>A
  hgvsp: ENSP00000303540.4:p.Val352Met
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+20514C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.115+11613C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4515
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4751
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7682
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5900
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5693
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4055
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val352Met
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

2-166904289-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166904289
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166904289
    reference: chr 2
allele count: 9
allele frequency: 7.417174880501072e-5
allele num: 121340
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+20550G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.116-11624G>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1029-11C>G
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+11649G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1029-11C>G
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1029-11C>G
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1029-11C>G
  variant of: http://identifiers.org/hgnc/10585
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5692
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5900
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4515
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4750
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7684
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5494
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1694
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54822
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-166904290-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166904290
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166904290
    reference: chr 2
allele count: 11
allele frequency: 9.066183136899366e-5
allele num: 121330
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1029-12C>T
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1029-12C>T
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1029-12C>T
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+20551G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+11650G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1029-12C>T
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.116-11623G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4054
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5900
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4748
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5692
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7691
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-166904306-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166904306
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166904306
    reference: chr 2
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+11666C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1029-28G>A
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1029-28G>A
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1029-28G>A
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+20567C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1029-28G>A
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.116-11607C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5693
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7684
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5492
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4748
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

2-166904312-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166904312
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166904312
    reference: chr 2
allele count: 12
allele frequency: 9.895927825699725e-5
allele num: 121262
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+20573G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+11672G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1029-34C>T
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1029-34C>T
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.116-11601G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1029-34C>T
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1029-34C>T
  variant of: http://identifiers.org/hgnc/10585
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5243
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5692
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3571
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5901
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5492
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7686
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1420
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum

2-166904320-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166904320
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166904320
    reference: chr 2
allele count: 3
allele frequency: 2.474104374216534e-5
allele num: 121256
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1029-42C>A
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+11680G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+20581G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1029-42C>A
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1029-42C>A
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1029-42C>A
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.116-11593G>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7684
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4055
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3570
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5904
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4516
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5691
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4748
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

2-166904325-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166904325
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166904325
    reference: chr 2
allele count: 47
allele frequency: 3.877375923970433e-4
allele num: 121216
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.116-11588T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1029-47A>G
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1029-47A>G
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+20586T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1029-47A>G
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+11685T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1029-47A>G
  variant of: http://identifiers.org/hgnc/10585
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5691
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5240
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4052
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5495
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5905
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7684
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54821
  bin: 9.75e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

2-166905352-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166905352
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166905352
    reference: chr 2
allele count: 1
allele frequency: 8.521662064969151e-6
allele num: 117348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+12712T>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1028+44A>T
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.116-10561T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1028+44A>T
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1028+44A>T
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1028+44A>T
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+21613T>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5597
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6381
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9513
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2277
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3653
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1775
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2823
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5445
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2761
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2478
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

2-166905361-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166905361
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166905361
    reference: chr 2
allele count: 22
allele frequency: 1.869603644027466e-4
allele num: 117672
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+12721A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.116-10552A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1028+35T>C
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1028+35T>C
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+21622A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1028+35T>C
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1028+35T>C
  variant of: http://identifiers.org/hgnc/10585
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10343
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20750
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2256
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4083
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3873
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1790
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1708
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1363
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5907
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2986
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-166905363-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166905363
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166905363
    reference: chr 2
allele count: 1
allele frequency: 8.490117503226245e-6
allele num: 117784
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1028+33T>C
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.116-10550A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1028+33T>C
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1028+33T>C
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+12723A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+21624A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1028+33T>C
  variant of: http://identifiers.org/hgnc/10585
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3728
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10469
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2256
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5926
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3024
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1888
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14672
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-166905375-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166905375
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166905375
    reference: chr 2
allele count: 62812
allele frequency: 5.2482411724403e-1
allele num: 119682
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1028+21T>C
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1028+21T>C
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+12735A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+21636A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.116-10538A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1028+21T>C
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1028+21T>C
  variant of: http://identifiers.org/hgnc/10585
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.5e0
  variant carriers: 199
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 5.25e1
  variant carriers: 2811
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 1.75e1
  variant carriers: 1485
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 9.75e1
  variant carriers: 4616
genotype depth: GenotypeDepth
  all individuals: 5634
  bin: 4.25e1
  variant carriers: 5130
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 1.25e1
  variant carriers: 547
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 8.25e1
  variant carriers: 681
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 6.25e1
  variant carriers: 1310
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 7.75e1
  variant carriers: 750
genotype depth: GenotypeDepth
  all individuals: 6692
  bin: 3.75e1
  variant carriers: 5850
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 5.75e1
  variant carriers: 1917
genotype depth: GenotypeDepth
  all individuals: 7791
  bin: 2.75e1
  variant carriers: 5012
genotype depth: GenotypeDepth
  all individuals: 7922
  bin: 2.25e1
  variant carriers: 3112
genotype depth: GenotypeDepth
  all individuals: 7745
  bin: 3.25e1
  variant carriers: 6028
genotype depth: GenotypeDepth
  all individuals: 4435
  bin: 4.75e1
  variant carriers: 4032
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 7.25e1
  variant carriers: 794
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 6.75e1
  variant carriers: 999
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 8.75e1
  variant carriers: 635
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 9.25e1
  variant carriers: 612
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 3.25e1
  variant carriers: 108
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 4.75e1
  variant carriers: 247
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 2.75e1
  variant carriers: 76
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 5.75e1
  variant carriers: 256
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 2.25e1
  variant carriers: 85
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 4.25e1
  variant carriers: 132
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 9.25e1
  variant carriers: 883
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.5e0
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 44130
  bin: 9.75e1
  variant carriers: 40664
genotype quality: GenotypeQuality
  all individuals: 2050
  bin: 6.75e1
  variant carriers: 612
num of homozygotes: 16581
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum

2-166905378-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166905378
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166905378
    reference: chr 2
allele count: 1
allele frequency: 8.328336331534413e-6
allele num: 120072
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1028+18G>A
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+21639C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.116-10535C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+12738C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1028+18G>A
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1028+18G>A
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1028+18G>A
  variant of: http://identifiers.org/hgnc/10585
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8815
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6906
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4095
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8334
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5427
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2023
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2570
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3078
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4621
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3840
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

2-166905389-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166905389
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166905389
    reference: chr 2
allele count: 1
allele frequency: 8.319052293562717e-6
allele num: 120206
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+21650G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.116-10524G>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1028+7C>A
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+12749G>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1028+7C>A
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1028+7C>A
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1028+7C>A
  variant of: http://identifiers.org/hgnc/10585
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6920
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9012
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8967
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8437
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11092
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2582
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3841
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
hgvs: c.1028+7C>A
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

2-166905419-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166905419
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166905419
    reference: chr 2
allele count: 1
allele frequency: 8.30592378484335e-6
allele num: 120396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1005A>T
  hgvsp: ENST00000409050.1:c.1005A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+21680T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+12779T>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1005A>T
  hgvsp: ENST00000423058.2:c.1005A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1005A>T
  hgvsp: ENST00000375405.3:c.1005A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1005A>T
  hgvsp: ENST00000303395.4:c.1005A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.116-10494T>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6936
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5437
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4092
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3885
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11797
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2624
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu335Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

2-166905419-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166905419
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166905419
    reference: chr 2
allele count: 1
allele frequency: 8.30592378484335e-6
allele num: 120396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.116-10494T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+21680T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1005A>G
  hgvsp: ENST00000409050.1:c.1005A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1005A>G
  hgvsp: ENST00000423058.2:c.1005A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1005A>G
  hgvsp: ENST00000303395.4:c.1005A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1005A>G
  hgvsp: ENST00000375405.3:c.1005A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+12779T>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4092
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5437
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6936
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9340
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3704
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4732
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11797
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3885
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu335Leu
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP

2-166905424-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166905424
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166905424
    reference: chr 2
allele count: 23
allele frequency: 1.910235540347497e-4
allele num: 120404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.1000C>G
  hgvsp: ENSP00000407030.2:p.Leu334Val
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.1000C>G
  hgvsp: ENSP00000303540.4:p.Leu334Val
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.1000C>G
  hgvsp: ENSP00000386312.1:p.Leu334Val
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+12784G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+21685G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.1000C>G
  hgvsp: ENSP00000364554.3:p.Leu334Val
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.116-10489G>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4119
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5442
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8548
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4090
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9362
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9151
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6937
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2623
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2038
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3701
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11832
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu334Val
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum

2-166905432-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166905432
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166905432
    reference: chr 2
allele count: 1
allele frequency: 8.305785810395521e-6
allele num: 120398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.992T>C
  hgvsp: ENSP00000407030.2:p.Leu331Ser
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.992T>C
  hgvsp: ENSP00000364554.3:p.Leu331Ser
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+12792A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+21693A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.992T>C
  hgvsp: ENSP00000386312.1:p.Leu331Ser
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.992T>C
  hgvsp: ENSP00000303540.4:p.Leu331Ser
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.116-10481A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4092
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5456
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3692
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2607
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2039
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4724
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3874
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu331Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

2-166905438-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166905438
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166905438
    reference: chr 2
allele count: 1
allele frequency: 8.305509875251242e-6
allele num: 120402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.986G>A
  hgvsp: ENSP00000364554.3:p.Gly329Asp
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.986G>A
  hgvsp: ENSP00000386312.1:p.Gly329Asp
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.986G>A
  hgvsp: ENSP00000407030.2:p.Gly329Asp
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+21699C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.986G>A
  hgvsp: ENSP00000303540.4:p.Gly329Asp
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.116-10475C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+12798C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8561
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9433
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4092
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6940
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11733
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2612
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3693
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4733
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3077
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly329Asp
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

2-166905441-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166905441
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166905441
    reference: chr 2
allele count: 2
allele frequency: 1.660908849322349e-5
allele num: 120416
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.983A>T
  hgvsp: ENSP00000386312.1:p.Glu328Val
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.983A>T
  hgvsp: ENSP00000303540.4:p.Glu328Val
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+21702T>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.983A>T
  hgvsp: ENSP00000407030.2:p.Glu328Val
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+12801T>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.983A>T
  hgvsp: ENSP00000364554.3:p.Glu328Val
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.116-10472T>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5439
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3076
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2040
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27640
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4727
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu328Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

2-166905443-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 166905443
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 166905443
    reference: chr 2
allele count: 2
allele frequency: 1.66096402351925e-5
allele num: 120412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595647
  gene symbol: AC010127.3
  hgvsc: ENST00000595647.1:n.424+21704C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000386312
  ensembl transcript: ENST00000409050
  gene symbol: SCN1A
  hgvsc: ENST00000409050.1:c.981G>A
  hgvsp: ENST00000409050.1:c.981G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000303540
  ensembl transcript: ENST00000303395
  gene symbol: SCN1A
  hgvsc: ENST00000303395.4:c.981G>A
  hgvsp: ENST00000303395.4:c.981G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000599041
  gene symbol: AC010127.3
  hgvsc: ENST00000599041.1:n.66+12803C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000364554
  ensembl transcript: ENST00000375405
  gene symbol: SCN1A
  hgvsc: ENST00000375405.3:c.981G>A
  hgvsp: ENST00000375405.3:c.981G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144285
  ensembl protein: ENSP00000407030
  ensembl transcript: ENST00000423058
  gene symbol: SCN1A
  hgvsc: ENST00000423058.2:c.981G>A
  hgvsp: ENST00000423058.2:c.981G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236107
  ensembl transcript: ENST00000595268
  gene symbol: AC010127.3
  hgvsc: ENST00000595268.1:n.116-10470C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8550
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8871
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6940
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu327Leu
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4647
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6658
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18581
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3408
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5175
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3336
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16425
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66644
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 8.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.05e0

MQRankSum
type: SiteQuality
SIO_000300: -2.28e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.25e-1

DP
type: SiteQuality
SIO_000300: 2.094959e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.47e-1

QD
type: SiteQuality
SIO_000300: 1.152e1

GenotypeQuality
all individuals: 73
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3335
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18583
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5174
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2291
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6660
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3408
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.286e1

VQSLOD
type: SiteQuality
SIO_000300: -2.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.73e-1

DP
type: SiteQuality
SIO_000300: 2.095479e6

FS
type: SiteQuality
SIO_000300: 1.4694e1

MQ
type: SiteQuality
SIO_000300: 5.966e1

GenotypeQuality
all individuals: 6658
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3409
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5175
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18585
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 3336
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2291
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4648
bin: 8.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999310158663508e-5
allele num: 66682
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.732801940738174e-4
allele num: 11542
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.41e0

FS
type: SiteQuality
SIO_000300: 3.543e0

MQ
type: SiteQuality
SIO_000300: 5.99e1

QD
type: SiteQuality
SIO_000300: 1.409e1

DP
type: SiteQuality
SIO_000300: 2.096586e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e-1

GenotypeQuality
all individuals: 6661
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16479
bin: 6.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 4647
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18587
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2290
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3410
bin: 7.25e1
variant carriers: 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: 11536
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66688
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.29e-1

DP
type: SiteQuality
SIO_000300: 2.096751e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

FS
type: SiteQuality
SIO_000300: 3.637e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.53e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.89e0

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

QD
type: SiteQuality
SIO_000300: 1.314e1

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

GenotypeQuality
all individuals: 2290
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16499
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3406
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6665
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18589
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
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: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 5.16e0

MQRankSum
type: SiteQuality
SIO_000300: -3.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.72e-1

FS
type: SiteQuality
SIO_000300: 1.105e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.89e-1

QD
type: SiteQuality
SIO_000300: 1.239e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -9.626e-1

DP
type: SiteQuality
SIO_000300: 2.097248e6

MQ
type: SiteQuality
SIO_000300: 5.976e1

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4647
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2290
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18590
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 16506
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.34e0

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

DP
type: SiteQuality
SIO_000300: 2.097381e6

FS
type: SiteQuality
SIO_000300: 3.577e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.04e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeQuality
all individuals: 2291
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18591
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4652
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16479
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6671
bin: 6.75e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 2.097731e6

MQRankSum
type: SiteQuality
SIO_000300: -1.159e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.15e0

QD
type: SiteQuality
SIO_000300: 1.486e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

FS
type: SiteQuality
SIO_000300: 2.794e0

VQSLOD
type: SiteQuality
SIO_000300: 5.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.747e0

GenotypeQuality
all individuals: 18592
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16475
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4650
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3335
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5179
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2291
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.47e0

DP
type: SiteQuality
SIO_000300: 2.097826e6

FS
type: SiteQuality
SIO_000300: 3.193e0

VQSLOD
type: SiteQuality
SIO_000300: 6.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.15e-1

QD
type: SiteQuality
SIO_000300: 1.419e1

MQ
type: SiteQuality
SIO_000300: 5.948e1

MQRankSum
type: SiteQuality
SIO_000300: 8.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.1e-1

GenotypeQuality
all individuals: 2291
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16424
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18596
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 5183
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6670
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4650
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
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: 4.496942079386017e-5
allele num: 66712
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.125e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.48e0

QD
type: SiteQuality
SIO_000300: 1.249e1

MQRankSum
type: SiteQuality
SIO_000300: -7.13e-1

DP
type: SiteQuality
SIO_000300: 2.098566e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.86e-1

GenotypeQuality
all individuals: 6687
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5186
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4656
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3337
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 2.741e0

VQSLOD
type: SiteQuality
SIO_000300: -4.716e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

QD
type: SiteQuality
SIO_000300: 7.35e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.0e-2

DP
type: SiteQuality
SIO_000300: 2.098823e6

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4657
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6685
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18596
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 6.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.098871e6

MQRankSum
type: SiteQuality
SIO_000300: -6.05e-1

FS
type: SiteQuality
SIO_000300: 2.445e0

QD
type: SiteQuality
SIO_000300: 1.159e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4652
bin: 8.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 16402
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5189
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
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: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.312138728323699e-4
allele num: 8650
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e0

MQRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.251e1

FS
type: SiteQuality
SIO_000300: 3.226e0

VQSLOD
type: SiteQuality
SIO_000300: 8.79e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.68e-1

DP
type: SiteQuality
SIO_000300: 2.099512e6

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 760
bin: 6.75e1
variant carriers: 21

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 13

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 7

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 7

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 125
bin: 8.75e1
variant carriers: 20

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 4

GenotypeQuality
all individuals: 200
bin: 9.25e1
variant carriers: 20

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 7

GenotypeQuality
all individuals: 55459
bin: 9.75e1
variant carriers: 54682

European (Finnish)
type: Population
allele count: 4959
allele frequency: 7.5e-1
allele num: 6612
num of homozygotes: 1866

Latino
type: Population
allele count: 9362
allele frequency: 8.100017304031839e-1
allele num: 11558
num of homozygotes: 3818

East Asian
type: Population
allele count: 7772
allele frequency: 8.987049028677151e-1
allele num: 8648
num of homozygotes: 3492

South Asian
type: Population
allele count: 11326
allele frequency: 6.860084797092671e-1
allele num: 16510
num of homozygotes: 3948

European (Non-Finnish)
type: Population
allele count: 45355
allele frequency: 6.798015528043406e-1
allele num: 66718
num of homozygotes: 15443

Other
type: Population
allele count: 607
allele frequency: 6.685022026431718e-1
allele num: 908
num of homozygotes: 198

African
type: Population
allele count: 5978
allele frequency: 5.748076923076924e-1
allele num: 10400
num of homozygotes: 1727

QD
type: SiteQuality
SIO_000300: 2.652e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.9e-2

MQ
type: SiteQuality
SIO_000300: 5.96e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.87e-2

DP
type: SiteQuality
SIO_000300: 6.88204e6

VQSLOD
type: SiteQuality
SIO_000300: 4.6e0

GenotypeQuality
all individuals: 4327
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2042
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3132
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28806
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9067
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8744
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3021
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66688
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 3.989e0

MQRankSum
type: SiteQuality
SIO_000300: -9.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.428e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.03e0

DP
type: SiteQuality
SIO_000300: 2.159373e6

VQSLOD
type: SiteQuality
SIO_000300: -2.772e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.4e-2

MQ
type: SiteQuality
SIO_000300: 5.823e1

QD
type: SiteQuality
SIO_000300: 1.485e1

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2043
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3020
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28783
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1373
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.486e0

FS
type: SiteQuality
SIO_000300: 3.128e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.93e-1

MQ
type: SiteQuality
SIO_000300: 5.819e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.8e-1

QD
type: SiteQuality
SIO_000300: 1.168e1

MQRankSum
type: SiteQuality
SIO_000300: -5.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.29e-1

DP
type: SiteQuality
SIO_000300: 2.158817e6

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 162
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9063
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1373
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8736
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.048e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.961e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.112e0

FS
type: SiteQuality
SIO_000300: 1.0154e1

DP
type: SiteQuality
SIO_000300: 2.1586e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.89e-1

QD
type: SiteQuality
SIO_000300: 9.109999999999999e0

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

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4318
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3019
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3126
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500375093773443e-5
allele num: 66650
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
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: 2.156255e6

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

FS
type: SiteQuality
SIO_000300: 2.012e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.3e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.33e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.599e0

QD
type: SiteQuality
SIO_000300: 8.619999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4303
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28404
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8665
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2037
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1370
bin: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.004627125773691e-5
allele num: 66564
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10200
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.901e1

DP
type: SiteQuality
SIO_000300: 2.149665e6

VQSLOD
type: SiteQuality
SIO_000300: -8.928e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.531e0

FS
type: SiteQuality
SIO_000300: 6.539e0

MQRankSum
type: SiteQuality
SIO_000300: 3.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.11e-1

QD
type: SiteQuality
SIO_000300: 1.428e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e-1

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4276
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9034
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3106
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2963
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1363
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8513
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66382
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10146
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211827435773146e-4
allele num: 16504
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.792e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 7.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.95e0

MQRankSum
type: SiteQuality
SIO_000300: 9.7e-2

DP
type: SiteQuality
SIO_000300: 2.141741e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.257e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e-1

GenotypeQuality
all individuals: 27666
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9031
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 108
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2034
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8441
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3107
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 3.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10136
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66352
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.515e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.56e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.06e0

DP
type: SiteQuality
SIO_000300: 2.138999e6

MQ
type: SiteQuality
SIO_000300: 5.948e1

QD
type: SiteQuality
SIO_000300: 1.637e1

VQSLOD
type: SiteQuality
SIO_000300: -1.306e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.7e-2

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2893
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1251
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2806
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3978
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1861
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 88
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 777
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 274
allele frequency: 4.160340115396295e-2
allele num: 6586
num of homozygotes: 5

South Asian
type: Population
allele count: 68
allele frequency: 4.120213281628696e-3
allele num: 16504
num of homozygotes: 0

Latino
type: Population
allele count: 222
allele frequency: 1.935483870967742e-2
allele num: 11470
num of homozygotes: 2

Other
type: Population
allele count: 36
allele frequency: 3.964757709251102e-2
allele num: 908
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 2549
allele frequency: 3.838392964703047e-2
allele num: 66408
num of homozygotes: 50

African
type: Population
allele count: 84
allele frequency: 8.321775312066574e-3
allele num: 10094
num of homozygotes: 1

East Asian
type: Population
allele count: 4
allele frequency: 4.654410053525716e-4
allele num: 8594
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.35e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.68e-1

MQ
type: SiteQuality
SIO_000300: 6.019e1

QD
type: SiteQuality
SIO_000300: 1.882e1

VQSLOD
type: SiteQuality
SIO_000300: 6.39e0

DP
type: SiteQuality
SIO_000300: 2.109349e6

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1251
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3978
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8105
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11321
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 27219
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2806
bin: 7.25e1
variant carriers: 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: 8594
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10094
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: 1.505842669557885e-5
allele num: 66408
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.68e-1

DP
type: SiteQuality
SIO_000300: 2.109349e6

MQ
type: SiteQuality
SIO_000300: 6.019e1

VQSLOD
type: SiteQuality
SIO_000300: 6.39e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.35e-2

QD
type: SiteQuality
SIO_000300: 1.882e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.7e-2

GenotypeQuality
all individuals: 4193
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2903
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28103
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1333
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10010
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66210
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
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: 1
allele frequency: 1.166588894073728e-4
allele num: 8572
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e0

FS
type: SiteQuality
SIO_000300: 4.301e0

DP
type: SiteQuality
SIO_000300: 1.992703e6

QD
type: SiteQuality
SIO_000300: 9.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.32e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

GenotypeQuality
all individuals: 8288
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 358
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1963
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1478
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8618
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51336299524804e-5
allele num: 66078
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9942
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11424
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.619e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.88e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.6e-2

MQ
type: SiteQuality
SIO_000300: 5.946e1

FS
type: SiteQuality
SIO_000300: 6.413e0

DP
type: SiteQuality
SIO_000300: 1.978033e6

GenotypeQuality
all individuals: 590
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4144
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1331
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2872
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3038
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.007658202337767e-4
allele num: 9924
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66024
num of homozygotes: 0

Other
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: 16472
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.084e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.1e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

QD
type: SiteQuality
SIO_000300: 1.225e1

VQSLOD
type: SiteQuality
SIO_000300: 3.8e-2

DP
type: SiteQuality
SIO_000300: 1.966867e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e-1

GenotypeQuality
all individuals: 8618
bin: 9.75e1
variant carriers: 17

GenotypeQuality
all individuals: 2582
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3886
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variant carriers: 0

GenotypeQuality
all individuals: 7213
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variant carriers: 0

GenotypeQuality
all individuals: 303
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variant carriers: 0

GenotypeQuality
all individuals: 25888
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variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1312
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

African
type: Population
allele count: 15
allele frequency: 1.526562181966212e-3
allele num: 9826
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.757469244288225e-4
allele num: 11380
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65838
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.43e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 5.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

DP
type: SiteQuality
SIO_000300: 1.92675e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.604e1

GenotypeQuality
all individuals: 2934
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1307
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1947
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variant carriers: 0

GenotypeQuality
all individuals: 8600
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 574
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22154
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.023960679909891e-4
allele num: 9766
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65678
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.24e0

DP
type: SiteQuality
SIO_000300: 1.859636e6

QD
type: SiteQuality
SIO_000300: 1.561e1

FS
type: SiteQuality
SIO_000300: 9.753e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.99e-1

GenotypeQuality
all individuals: 548
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2745
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1938
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1424
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1294
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5572
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3695
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1544
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8594
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11284
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9644
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.532191340054546e-5
allele num: 65266
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8422
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.0e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.062e-1

QD
type: SiteQuality
SIO_000300: 1.48e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.765909e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.18e0

GenotypeQuality
all individuals: 548
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3922
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1424
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3365
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1544
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3695
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2745
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2347
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1294
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.532191340054546e-5
allele num: 65266
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8422
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11284
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -6.062e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-1

DP
type: SiteQuality
SIO_000300: 1.765909e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.0e-1

QD
type: SiteQuality
SIO_000300: 1.48e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2547
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2439
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4201
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2744
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11437
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2877
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.553028957186001e-4
allele num: 11258
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8380
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65016
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.747189e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.932e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.204e0

QD
type: SiteQuality
SIO_000300: 1.069e1

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 521
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variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 54782
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 694
bin: 6.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10204
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: 906
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.982e1

DP
type: SiteQuality
SIO_000300: 4.268298e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.09e-1

FS
type: SiteQuality
SIO_000300: 1.676e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.84e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-2

QD
type: SiteQuality
SIO_000300: 1.421e1

MQRankSum
type: SiteQuality
SIO_000300: 3.95e-1

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 974
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54782
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 701
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10206
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.999340072592015e-5
allele num: 66674
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.429e1

VQSLOD
type: SiteQuality
SIO_000300: 6.1e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.371e0

FS
type: SiteQuality
SIO_000300: 2.224e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.48e-1

DP
type: SiteQuality
SIO_000300: 4.268832e6

MQRankSum
type: SiteQuality
SIO_000300: 1.66e-1

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 70
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 463
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54782
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66672
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10216
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.668515950069348e-5
allele num: 11536
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e0

FS
type: SiteQuality
SIO_000300: 3.514e0

DP
type: SiteQuality
SIO_000300: 4.269672e6

QD
type: SiteQuality
SIO_000300: 9.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.668e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

VQSLOD
type: SiteQuality
SIO_000300: -9.93e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.45e0

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 467
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GenotypeQuality
all individuals: 783
bin: 8.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.498695378340282e-5
allele num: 66686
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.272449e6

MQRankSum
type: SiteQuality
SIO_000300: -2.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.364e0

QD
type: SiteQuality
SIO_000300: 1.183e1

FS
type: SiteQuality
SIO_000300: 2.686e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.5e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

GenotypeQuality
all individuals: 783
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54783
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 4.27324e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.548e0

MQRankSum
type: SiteQuality
SIO_000300: -3.3e-1

QD
type: SiteQuality
SIO_000300: 1.295e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.7e-1

FS
type: SiteQuality
SIO_000300: 7.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

VQSLOD
type: SiteQuality
SIO_000300: 8.75e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 27
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GenotypeQuality
all individuals: 2
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.47e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.49e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.76e0

DP
type: SiteQuality
SIO_000300: 4.282034e6

QD
type: SiteQuality
SIO_000300: 1.501e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.04e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.87e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6
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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
all individuals: 54797
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variant carriers: 235

GenotypeQuality
all individuals: 14
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variant carriers: 0

Other
type: Population
allele count: 3
allele frequency: 3.303964757709251e-3
allele num: 908
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 9
allele frequency: 1.362397820163488e-3
allele num: 6606
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.92270717169775e-4
allele num: 10402
num of homozygotes: 0

South Asian
type: Population
allele count: 33
allele frequency: 1.999030772958565e-3
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 186
allele frequency: 2.789191134570974e-3
allele num: 66686
num of homozygotes: 1

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

VQSLOD
type: SiteQuality
SIO_000300: 4.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

DP
type: SiteQuality
SIO_000300: 4.282034e6

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.87e0

QD
type: SiteQuality
SIO_000300: 1.501e1

MQRankSum
type: SiteQuality
SIO_000300: 3.49e-1

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1575
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 14
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 29
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 6.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 4.271167e6

FS
type: SiteQuality
SIO_000300: 1.593e0

QD
type: SiteQuality
SIO_000300: 1.43e1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
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: 0
allele frequency: 0.0e0
allele num: 11542
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.99868058054456e-5
allele num: 66696
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.986e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.15e-1

FS
type: SiteQuality
SIO_000300: 3.415e0

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 4.271222e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e0

GenotypeQuality
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.966e1

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
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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: 66678
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Other
type: Population
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allele num: 908
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South Asian
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East Asian
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allele frequency: 1.15606936416185e-4
allele num: 8650
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.95e-1

FS
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MQRankSum
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SIO_000300: 1.56e0

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 4.271253e6

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

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

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

East Asian
type: Population
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allele num: 8648
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: 1
allele frequency: 1.51285930408472e-4
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

South Asian
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allele count: 0
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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DP
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SIO_000300: 4.271189e6

MQ
type: SiteQuality
SIO_000300: 5.685e1

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

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

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

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 974
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54759
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 724
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.51285930408472e-4
allele num: 6610
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.999520038396928e-5
allele num: 66672
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 7.0121e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.167e0

VQSLOD
type: SiteQuality
SIO_000300: -2.404e1

MQRankSum
type: SiteQuality
SIO_000300: -1.732e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e0

DP
type: SiteQuality
SIO_000300: 4.271331e6

MQ
type: SiteQuality
SIO_000300: 5.909e1

QD
type: SiteQuality
SIO_000300: 6.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.407e0

GenotypeQuality
all individuals: 1567
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 54760
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 81
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 976
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 784
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66688
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.72e-1

QD
type: SiteQuality
SIO_000300: 1.943e1

DP
type: SiteQuality
SIO_000300: 4.271297e6

GenotypeQuality
all individuals: 526
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 669
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54762
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 784
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 974
bin: 9.25e1
variant carriers: 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: 11542
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.500180007200288e-5
allele num: 66664
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.757e1

MQ
type: SiteQuality
SIO_000300: 5.954e1

DP
type: SiteQuality
SIO_000300: 4.271614e6

VQSLOD
type: SiteQuality
SIO_000300: -2.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.304e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.732e0

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 708
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 669
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 54684
bin: 9.75e1
variant carriers: 72

GenotypeQuality
all individuals: 36
bin: 3.25e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 54
allele frequency: 8.104457451598379e-4
allele num: 66630
num of homozygotes: 0

African
type: Population
allele count: 21
allele frequency: 2.02000769526741e-3
allele num: 10396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 9.163103237629811e-4
allele num: 6548
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 4.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.037e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

DP
type: SiteQuality
SIO_000300: 4.276681e6

MQRankSum
type: SiteQuality
SIO_000300: -6.97e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.579e1

FS
type: SiteQuality
SIO_000300: 7.4173e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.97e-1

GenotypeQuality
all individuals: 30
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 786
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 720
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1555
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54768
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 674
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 7.25e1
variant carriers: 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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499790029395885e-5
allele num: 66676
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.112e0

QD
type: SiteQuality
SIO_000300: 5.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.206e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.924e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.13e0

MQRankSum
type: SiteQuality
SIO_000300: 6.79e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.555e1

FS
type: SiteQuality
SIO_000300: 1.52564e2

DP
type: SiteQuality
SIO_000300: 4.278219e6

GenotypeQuality
all individuals: 1467
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 733
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53944
bin: 9.75e1
variant carriers: 11

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.219660934260276e-4
allele num: 65592
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.577784790154623e-4
allele num: 6338
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.986019572598362e-5
allele num: 10014
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -7.366e1

QD
type: SiteQuality
SIO_000300: 4.79e0

MQRankSum
type: SiteQuality
SIO_000300: -3.9e-1

DP
type: SiteQuality
SIO_000300: 4.301388e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.717e0

FS
type: SiteQuality
SIO_000300: 1.18955e2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.435e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 55144
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1480
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 744
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 633
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
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: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 3.17219e2

MQ
type: SiteQuality
SIO_000300: 5.858e1

MQRankSum
type: SiteQuality
SIO_000300: 3.39e-1

QD
type: SiteQuality
SIO_000300: 4.24e0

VQSLOD
type: SiteQuality
SIO_000300: -1.118e2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e1

DP
type: SiteQuality
SIO_000300: 4.329173e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.537000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.89e0

GenotypeQuality
all individuals: 557
bin: 6.75e1
variant carriers: 6

GenotypeQuality
all individuals: 31
bin: 7.5e0
variant carriers: 7

GenotypeQuality
all individuals: 29
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 38
bin: 1.75e1
variant carriers: 6

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 7

GenotypeQuality
all individuals: 50932
bin: 9.75e1
variant carriers: 656

GenotypeQuality
all individuals: 1310
bin: 6.25e1
variant carriers: 9

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 5

Latino
type: Population
allele count: 14
allele frequency: 1.237404984974368e-3
allele num: 11314
num of homozygotes: 0

Other
type: Population
allele count: 8
allele frequency: 1.023017902813299e-2
allele num: 782
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 47
allele frequency: 8.948971820258949e-3
allele num: 5252
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.213150551983501e-4
allele num: 16486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 463
allele frequency: 7.614380159852646e-3
allele num: 60806
num of homozygotes: 0

East Asian
type: Population
allele count: 27
allele frequency: 3.208174904942966e-3
allele num: 8416
num of homozygotes: 0

African
type: Population
allele count: 162
allele frequency: 1.851005484460695e-2
allele num: 8752
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.1142e2

MQ
type: SiteQuality
SIO_000300: 5.918e1

DP
type: SiteQuality
SIO_000300: 4.471087e6

MQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.491e0

QD
type: SiteQuality
SIO_000300: 4.89e0

VQSLOD
type: SiteQuality
SIO_000300: -4.637e2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.868e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.21e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.77e0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 484
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54829
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.304e0

QD
type: SiteQuality
SIO_000300: 1.443e1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.553e0

FS
type: SiteQuality
SIO_000300: 2.459e0

MQ
type: SiteQuality
SIO_000300: 5.902e1

DP
type: SiteQuality
SIO_000300: 4.242479e6

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

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

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 427
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 660
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 967
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -8.149999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.389e1

DP
type: SiteQuality
SIO_000300: 4.242463e6

VQSLOD
type: SiteQuality
SIO_000300: -1.077e0

FS
type: SiteQuality
SIO_000300: 4.106e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.78e0

MQ
type: SiteQuality
SIO_000300: 5.888e1

GenotypeQuality
all individuals: 54828
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 426
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 967
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1741
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 767
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.404e0

QD
type: SiteQuality
SIO_000300: 1.551e1

DP
type: SiteQuality
SIO_000300: 4.242319e6

MQ
type: SiteQuality
SIO_000300: 5.928e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.148e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e0

MQRankSum
type: SiteQuality
SIO_000300: 9.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.5e-1

GenotypeQuality
all individuals: 484
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 727
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 768
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.731002250302925e-4
allele num: 11554
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.049412329095706e-4
allele num: 66704
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.331e0

DP
type: SiteQuality
SIO_000300: 4.241309e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.87e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

MQRankSum
type: SiteQuality
SIO_000300: 8.31e-1

QD
type: SiteQuality
SIO_000300: 1.161e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.87e-1

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 765
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54821
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 966
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

Latino
type: Population
allele count: 11
allele frequency: 9.522160664819945e-4
allele num: 11552
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

FS
type: SiteQuality
SIO_000300: 5.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.634e0

VQSLOD
type: SiteQuality
SIO_000300: 2.16e0

DP
type: SiteQuality
SIO_000300: 4.241456e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

QD
type: SiteQuality
SIO_000300: 1.243e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.64e-1

GenotypeQuality
all individuals: 967
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 760
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 54819
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 650
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
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: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66684
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
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: 1.63e0

QD
type: SiteQuality
SIO_000300: 1.281e1

DP
type: SiteQuality
SIO_000300: 4.238993e6

FS
type: SiteQuality
SIO_000300: 3.74e0

VQSLOD
type: SiteQuality
SIO_000300: 1.51e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -7.549e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.425e0

GenotypeQuality
all individuals: 678
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54817
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 407
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 967
bin: 9.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.667013347200555e-5
allele num: 11538
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.499775011249437e-5
allele num: 66670
num of homozygotes: 0

African
type: Population
allele count: 8
allele frequency: 7.693787266782073e-4
allele num: 10398
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.574e0

VQSLOD
type: SiteQuality
SIO_000300: 3.7e0

DP
type: SiteQuality
SIO_000300: 4.237425e6

MQRankSum
type: SiteQuality
SIO_000300: 3.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.033e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

MQ
type: SiteQuality
SIO_000300: 5.982e1

QD
type: SiteQuality
SIO_000300: 1.319e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.63e-1

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54815
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 100
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1234
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 746
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 4.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999940001199976e-5
allele num: 66668
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.831e0

QD
type: SiteQuality
SIO_000300: 1.306e1

MQRankSum
type: SiteQuality
SIO_000300: 9.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.062e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.87e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

VQSLOD
type: SiteQuality
SIO_000300: 5.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.1e-2

DP
type: SiteQuality
SIO_000300: 4.234813e6

GenotypeQuality
all individuals: 606
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 983
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
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variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 747
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.20037211535576e-4
allele num: 66646
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 6.932409012131716e-4
allele num: 11540
num of homozygotes: 0

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

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

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 30
allele frequency: 2.889060092449923e-3
allele num: 10384
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.64e0

VQSLOD
type: SiteQuality
SIO_000300: 3.88e0

DP
type: SiteQuality
SIO_000300: 4.233387e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.626e1

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-2

MQ
type: SiteQuality
SIO_000300: 5.975e1

GenotypeQuality
all individuals: 2981
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 2.5e0
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 265
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variant carriers: 0

GenotypeQuality
all individuals: 1854
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 349
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variant carriers: 0

GenotypeQuality
all individuals: 14605
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1313
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.552553951249806e-5
allele num: 64410
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10054
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11032
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16142
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8376
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6452
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.051887e6

VQSLOD
type: SiteQuality
SIO_000300: -1.493e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.37e-1

QD
type: SiteQuality
SIO_000300: 1.18e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.228e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.04e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 863
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14677
bin: 9.75e1
variant carriers: 22

GenotypeQuality
all individuals: 884
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1877
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16180
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10068
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11060
num of homozygotes: 0

East Asian
type: Population
allele count: 22
allele frequency: 2.614689802709769e-3
allele num: 8414
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.451e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

DP
type: SiteQuality
SIO_000300: 2.097761e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.006e0

VQSLOD
type: SiteQuality
SIO_000300: 2.81e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.198e0

MQRankSum
type: SiteQuality
SIO_000300: -3.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.53e-1

GenotypeQuality
all individuals: 2667
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3902
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variant carriers: 0

GenotypeQuality
all individuals: 839
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
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variant carriers: 0

GenotypeQuality
all individuals: 18436
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 585
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variant carriers: 0

GenotypeQuality
all individuals: 466
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variant carriers: 0

GenotypeQuality
all individuals: 1631
bin: 3.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16186
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.546072974644403e-5
allele num: 64680
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11072
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8428
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.287e0

MQRankSum
type: SiteQuality
SIO_000300: -9.14e-1

FS
type: SiteQuality
SIO_000300: 5.86e-1

MQ
type: SiteQuality
SIO_000300: 5.812e1

QD
type: SiteQuality
SIO_000300: 9.73e0

DP
type: SiteQuality
SIO_000300: 2.105511e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -4.628e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.64e-1

GenotypeQuality
all individuals: 322
bin: 3.75e1
variant carriers: 159

GenotypeQuality
all individuals: 93
bin: 7.5e0
variant carriers: 28

GenotypeQuality
all individuals: 439
bin: 5.25e1
variant carriers: 349

GenotypeQuality
all individuals: 797
bin: 8.75e1
variant carriers: 474

GenotypeQuality
all individuals: 5209
bin: 6.25e1
variant carriers: 441

GenotypeQuality
all individuals: 1516
bin: 8.25e1
variant carriers: 816

GenotypeQuality
all individuals: 1606
bin: 7.75e1
variant carriers: 715

GenotypeQuality
all individuals: 88
bin: 1.75e1
variant carriers: 57

GenotypeQuality
all individuals: 1015
bin: 7.25e1
variant carriers: 378

African
type: Population
allele count: 3701
allele frequency: 3.617083659108679e-1
allele num: 10232
num of homozygotes: 645

European (Finnish)
type: Population
allele count: 3510
allele frequency: 5.4e-1
allele num: 6500
num of homozygotes: 939

East Asian
type: Population
allele count: 4900
allele frequency: 5.749823984980051e-1
allele num: 8522
num of homozygotes: 1380

Latino
type: Population
allele count: 5537
allele frequency: 4.939339875111508e-1
allele num: 11210
num of homozygotes: 1363

Other
type: Population
allele count: 474
allele frequency: 5.254988913525499e-1
allele num: 902
num of homozygotes: 121

European (Non-Finnish)
type: Population
allele count: 35580
allele frequency: 5.399581145476068e-1
allele num: 65894
num of homozygotes: 9556

South Asian
type: Population
allele count: 9110
allele frequency: 5.547436365850688e-1
allele num: 16422
num of homozygotes: 2577

ClippingRankSum
type: SiteQuality
SIO_000300: -3.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.15e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.53e0

QD
type: SiteQuality
SIO_000300: 2.222e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.54e-2

MQ
type: SiteQuality
SIO_000300: 5.978e1

DP
type: SiteQuality
SIO_000300: 2.951632e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.06e0

GenotypeQuality
all individuals: 59
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 574
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variant carriers: 0

GenotypeQuality
all individuals: 3677
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9846
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 624
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27622
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11282
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512127260630255e-5
allele num: 66132
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10246
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQRankSum
type: SiteQuality
SIO_000300: -1.279e0

FS
type: SiteQuality
SIO_000300: 1.89e0

VQSLOD
type: SiteQuality
SIO_000300: -2.51e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.808924e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 2.543e1

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

GenotypeQuality
all individuals: 27624
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 106
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4711
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3691
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2036
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3076
bin: 9.25e1
variant carriers: 0

Other
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: 16444
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510574018126888e-5
allele num: 66200
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10270
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11300
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.074e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.292e0

DP
type: SiteQuality
SIO_000300: 2.817256e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.73e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeQuality
all individuals: 75
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3081
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27636
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4732
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3704
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2039
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66266
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

Other
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: 16462
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.163873370577281e-4
allele num: 8592
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.62e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 2.826564e6

VQSLOD
type: SiteQuality
SIO_000300: 2.96e0

FS
type: SiteQuality
SIO_000300: 7.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.78e0

QD
type: SiteQuality
SIO_000300: 1.182e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.34e-1

GenotypeQuality
all individuals: 61
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2624
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3081
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2039
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27636
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11342
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509069507741527e-5
allele num: 66266
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.62e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.34e-1

FS
type: SiteQuality
SIO_000300: 7.83e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.78e0

VQSLOD
type: SiteQuality
SIO_000300: 2.96e0

QD
type: SiteQuality
SIO_000300: 1.182e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 2.826564e6

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

GenotypeQuality
all individuals: 101
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
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variant carriers: 0

GenotypeQuality
all individuals: 3875
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variant carriers: 0

GenotypeQuality
all individuals: 45
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variant carriers: 0

GenotypeQuality
all individuals: 4741
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27645
bin: 9.75e1
variant carriers: 23

GenotypeQuality
all individuals: 3079
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.645502645502646e-4
allele num: 11340
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.164415463437354e-4
allele num: 8588
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 2.866712936419324e-4
allele num: 66278
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.7e-2

FS
type: SiteQuality
SIO_000300: 5.21e-1

DP
type: SiteQuality
SIO_000300: 2.827706e6

MQRankSum
type: SiteQuality
SIO_000300: 2.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

QD
type: SiteQuality
SIO_000300: 1.371e1

MQ
type: SiteQuality
SIO_000300: 5.954e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.55e-1

GenotypeQuality
all individuals: 39
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
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GenotypeQuality
all individuals: 117
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GenotypeQuality
all individuals: 95
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GenotypeQuality
all individuals: 3077
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variant carriers: 0

GenotypeQuality
all individuals: 486
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GenotypeQuality
all individuals: 38
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GenotypeQuality
all individuals: 27637
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11799
bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508841813024323e-5
allele num: 66276
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -3.851e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

MQRankSum
type: SiteQuality
SIO_000300: -1.046e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.2e-2

QD
type: SiteQuality
SIO_000300: 1.459e1

FS
type: SiteQuality
SIO_000300: 4.375e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.219e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 2.827875e6

GenotypeQuality
all individuals: 115
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3871
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
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variant carriers: 0

GenotypeQuality
all individuals: 81
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GenotypeQuality
all individuals: 486
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GenotypeQuality
all individuals: 39
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GenotypeQuality
all individuals: 27639
bin: 9.75e1
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GenotypeQuality
all individuals: 2040
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
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variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 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: 0
allele frequency: 0.0e0
allele num: 66280
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.073858114674441e-5
allele num: 16464
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.936e1

DP
type: SiteQuality
SIO_000300: 2.826909e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

FS
type: SiteQuality
SIO_000300: 2.798e0

MQRankSum
type: SiteQuality
SIO_000300: 5.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.94e-1

QD
type: SiteQuality
SIO_000300: 1.137e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.5e-2

GenotypeQuality
all individuals: 492
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 125
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GenotypeQuality
all individuals: 11696
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3869
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variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 3.75e1
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GenotypeQuality
all individuals: 2616
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3693
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variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.016955288722621e-5
allele num: 66292
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.91e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.035e0

DP
type: SiteQuality
SIO_000300: 2.826706e6

QD
type: SiteQuality
SIO_000300: 1.333e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4